{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T22:01:05Z","timestamp":1783548065017,"version":"3.55.0"},"reference-count":25,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T00:00:00Z","timestamp":1601596800000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["201610PJT-377869"],"award-info":[{"award-number":["201610PJT-377869"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-G2-341146-159133-BRIDG"],"award-info":[{"award-number":["MOP-G2-341146-159133-BRIDG"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["201603PJT-148695"],"award-info":[{"award-number":["201603PJT-148695"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["2017-2022"],"award-info":[{"award-number":["2017-2022"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec\u2013Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013020","name":"Compute Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013020","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008644","name":"McGill Faculty of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008644","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of National Education, Republic of Indonesia"},{"DOI":"10.13039\/100011775","name":"BC Children\u2019s Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011775","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS082094"],"award-info":[{"award-number":["R01NS082094"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,23]]},"abstract":"Abstract<\/jats:title>\n \n Context<\/jats:title>\n 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy.<\/jats:p>\n <\/jats:sec>\n \n Design<\/jats:title>\n An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype\/phenotype associations were also investigated.<\/jats:p>\n <\/jats:sec>\n \n Setting<\/jats:title>\n This was a multicenter retrospective study using information collected from 3 predominant centers.<\/jats:p>\n <\/jats:sec>\n \n Patients<\/jats:title>\n A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included.<\/jats:p>\n <\/jats:sec>\n \n Main Outcome Measures<\/jats:title>\n Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n The most common endocrine abnormalities were delayed puberty (57\/74; 77% overall, 64% in males, 89% in females) and short stature (57\/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13\/59) of patients.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.<\/jats:p>\n <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa700","type":"journal-article","created":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T11:37:13Z","timestamp":1601638633000},"page":"e660-e674","source":"Crossref","is-referenced-by-count":45,"title":["Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A<\/i>, POLR3B<\/i>, and POLR1C<\/i>"],"prefix":"10.1210","volume":"106","author":[{"given":"F\u00e9lixe","family":"Pelletier","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6881-7573","authenticated-orcid":false,"given":"Stefanie","family":"Perrier","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7284-7487","authenticated-orcid":false,"given":"Ferdy K","family":"Cayami","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"},{"name":"Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8887-1681","authenticated-orcid":false,"given":"Amytice","family":"Mirchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6966-7538","authenticated-orcid":false,"given":"Stephan","family":"Saikali","sequence":"additional","affiliation":[{"name":"Department of Pathology, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec City, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luan T","family":"Tran","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Ulrick","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8412-9925","authenticated-orcid":false,"given":"Kether","family":"Guerrero","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7427-8246","authenticated-orcid":false,"given":"Emmanouil","family":"Rampakakis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6077-8725","authenticated-orcid":false,"given":"Rosalina M L","family":"van Spaendonk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakkubai","family":"Naidu","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2996-7210","authenticated-orcid":false,"given":"Daniela","family":"Pohl","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6552-402X","authenticated-orcid":false,"given":"William T","family":"Gibson","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, BC Children\u2019s Hospital Research Institute, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Demos","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children\u2019s Hospital, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Goizet","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Neurog\u00e9n\u00e9tique, Service de G\u00e9n\u00e9tique M\u00e9dicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Universit\u00e9 de Bordeaux, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5547-2257","authenticated-orcid":false,"given":"Ingrid","family":"Tejera-Martin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario Nuestra Sen\u0303ora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Potic","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent L","family":"Fogel","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1394-3561","authenticated-orcid":false,"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Montreal Neurological Institute, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Sylvain","sequence":"additional","affiliation":[{"name":"Centre M\u00e8re Enfant, CHU de Qu\u00e9bec, Qu\u00e9bec City, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"S\u00e9bire","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, Universit\u00e9 de Sherbrooke, Sherbrooke, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2296-6098","authenticated-orcid":false,"given":"Charles Marques","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina, Centro Universitario Est\u00e1cio de Ribeir\u00e3o Preto, Ribeir\u00e3o Preto, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L","family":"Bonkowsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coriene","family":"Catsman-Berrevoets","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children\u2019s Hospital, 3015 CN Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6921-6366","authenticated-orcid":false,"given":"Pedro S","family":"Pinto","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandya","family":"Tirupathi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petter","family":"Str\u00f8mme","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullev\u00e5l, 0450 Oslo, and University of Oslo, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2356-4082","authenticated-orcid":false,"given":"Ton","family":"de Grauw","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3079-1416","authenticated-orcid":false,"given":"Dorota","family":"Gieruszczak-Bialek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute, Warsaw, Poland"},{"name":"Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4599-1373","authenticated-orcid":false,"given":"Ingeborg","family":"Kr\u00e4geloh-Mann","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Children\u2019s Hospital T\u00fcbingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mierzewska","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Philippi","sequence":"additional","affiliation":[{"name":"Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-3872","authenticated-orcid":false,"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda","family":"Banwell","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S","family":"Benko","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children\u2019s Hospital, University Hospital, LMU Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Bley","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Boltshauser","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Children\u2019s Hospital Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drago","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Metabolic Clinic, Women\u2019s and Children\u2019s Hospital, North Adelaide, South Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klara","family":"Brozova","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ic\u00edar","family":"Cimas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Povisa Hospital, Vigo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Clough","sequence":"additional","affiliation":[{"name":"Department of Neurology, King\u2019s College Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Corenblum","sequence":"additional","affiliation":[{"name":"Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argirios","family":"Dinopoulos","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, National and Kapodistrian University of Athens, \u201cAttikon\u201d Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Dolan","sequence":"additional","affiliation":[{"name":"Bristow Pediatrics, Bristow, VA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1483-3612","authenticated-orcid":false,"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Associates, Tampa, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Pathology, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Eugenia","family":"Garcia Garcia","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Royal London Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina","family":"Gburek-Augustat","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Gonzalez Moron","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Hamati","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Indiana University, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5734-8548","authenticated-orcid":false,"given":"Inga","family":"Harting","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Hertzberg","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Vivantes Klinikum, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Hill","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5275-5953","authenticated-orcid":false,"given":"Grace M","family":"Hobson","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9881-5467","authenticated-orcid":false,"given":"A Micheil","family":"Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Alberta Children\u2019s Hospital Research Institute, University of Calgary, Calgary, AB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo","family":"Kauffman","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2008-4654","authenticated-orcid":false,"given":"Susan M","family":"Kirwin","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Kluger","sequence":"additional","affiliation":[{"name":"PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Sch\u00f6n Klinik Vogtareuth, Vogtareuth, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Kolditz","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urania","family":"Kotzaeridou","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Children\u2019s Hospital Heidelberg, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4207-5065","authenticated-orcid":false,"given":"Roberta","family":"La Piana","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eriskay","family":"Liston","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"McClintock","sequence":"additional","affiliation":[{"name":"Pediatric Specialists of Virginia, Fairfax, VA, USA"},{"name":"Department of Neurology, Children\u2019s National Medical Center, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3496-3337","authenticated-orcid":false,"given":"Meriel","family":"McEntagart","sequence":"additional","affiliation":[{"name":"South West Thames Regional Genetics Service, St. George\u2019s Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"McKenzie","sequence":"additional","affiliation":[{"name":"Genetic Services of Western Australia, Subiaco, WA, Australia"},{"name":"School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Melan\u00e7on","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, McGill University Health Centre, Montreal Children\u2019s Hospital, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjum","family":"Misbahuddin","sequence":"additional","affiliation":[{"name":"Essex Centre for Neurological Sciences, Queen\u2019s Hospital, Romford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9037-701X","authenticated-orcid":false,"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9599-9619","authenticated-orcid":false,"given":"Fernando I","family":"Monton","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario Nuestra Sen\u0303ora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8942-6731","authenticated-orcid":false,"given":"Sebastien","family":"Moutton","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Bordeaux, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond P J","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital, Tallaght, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1870-1142","authenticated-orcid":false,"given":"Miriam","family":"Nickel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0584-8866","authenticated-orcid":false,"given":"H\u00fcseyin","family":"Onay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ege University, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8947-9342","authenticated-orcid":false,"given":"Simona","family":"Orcesi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7542-7787","authenticated-orcid":false,"given":"Ferda","family":"\u00d6zk\u0131nay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffi","family":"Patzer","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helio","family":"Pedro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Joseph M. Sanzari Children\u2019s Hospital, Hackensack University Medical Center, Hackensack, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6793-5527","authenticated-orcid":false,"given":"Sandra","family":"Pekic","sequence":"additional","affiliation":[{"name":"Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-9807","authenticated-orcid":false,"given":"Mercedes","family":"Pineda Marfa","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu n\u00ba2, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Pizzino","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Plecko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bwee Tien","family":"Poll-The","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Emma Children\u2019s Hospital, 1105 Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Popovic","sequence":"additional","affiliation":[{"name":"Medical Faculty, University of Belgrade, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietz","family":"Rating","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, University Children\u2019s Hospital, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-France","family":"Rioux","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Sherbrooke - H\u00f4pital Fleurimont, Sherbrooke, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3646-7660","authenticated-orcid":false,"given":"Norberto","family":"Rodriguez Espinosa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario Nuestra Sen\u0303ora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5799-0293","authenticated-orcid":false,"given":"Anne","family":"Ronan","sequence":"additional","affiliation":[{"name":"Hunter New England LHD, University of Newcastle, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3906-0831","authenticated-orcid":false,"given":"John R","family":"Ostergaard","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Universit\u00e9 de Montr\u00e9al, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5058-0686","authenticated-orcid":false,"given":"Rocio","family":"Sanchez-Carpintero","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Schossig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesrin","family":"Senbil","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, K\u0131r\u0131kkale University Medical Faculty, K\u0131r\u0131kkale, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura K","family":"S\u00f8nderberg Roos","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy A","family":"Stevens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-7273","authenticated-orcid":false,"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8698-6514","authenticated-orcid":false,"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5114-3173","authenticated-orcid":false,"given":"Daniel","family":"Tibussek","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children\u2019s Hospital, Heinrich-Heine-University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1935-416X","authenticated-orcid":false,"given":"Dagmar","family":"Timmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9371-7454","authenticated-orcid":false,"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[{"name":"Child Neurology Unit, V. Buzzi Children\u2019s Hospital, Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4412-1616","authenticated-orcid":false,"given":"Bart P","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"V\u00e1zquez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Neuropediatr\u00eda. Hospital Maternoinfantil Gregorio Mara\u00f1\u00f3n, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunita","family":"Venkateswaran","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9106-9032","authenticated-orcid":false,"given":"Pontus","family":"Wasling","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangeline","family":"Wassmer","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Birmingham Children\u2019s Hospital, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard I","family":"Webster","sequence":"additional","affiliation":[{"name":"T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children\u2019s Hospital at Westmead, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6244-2195","authenticated-orcid":false,"given":"Gert","family":"Wiegand","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University Hospital Kiel, Germany"},{"name":"Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7635-564X","authenticated-orcid":false,"given":"Joost","family":"Rotteveel","sequence":"additional","affiliation":[{"name":"Emma Children\u2019s Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2437-0252","authenticated-orcid":false,"given":"Raphael","family":"Schiffmann","sequence":"additional","affiliation":[{"name":"Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"},{"name":"Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6290-6751","authenticated-orcid":false,"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5524-2646","authenticated-orcid":false,"given":"Gabriel \u00c1","family":"Martos-Moreno","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, Instituto de Investigaci\u00f3n La Princesa, Madrid, Spain"},{"name":"Department of Pediatrics, Universidad Aut\u00f3noma de Madrid, 28049 Madrid, Spain"},{"name":"CIBER de Fisiopatologia de la Obesidad y Nutrici\u03ccn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7624-6635","authenticated-orcid":false,"given":"Constantin","family":"Polychronakos","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Montreal Children\u2019s Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-0728","authenticated-orcid":false,"given":"Nicole I","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Bernard","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2020,10,1]]},"reference":[{"issue":"4","key":"2021122205234105800_CIT0001","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.ymgme.2015.01.006","article-title":"Case definition and classification of leukodystrophies and leukoencephalopathies","volume":"114","author":"Vanderver","year":"2015","journal-title":"Mol Genet Metab."},{"issue":"3","key":"2021122205234105800_CIT0002","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","article-title":"Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms","volume":"134","author":"van der Knaap","year":"2017","journal-title":"Acta Neuropathol."},{"issue":"8","key":"2021122205234105800_CIT0003","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","article-title":"Invited article: an MRI-based approach to the diagnosis of white matter disorders","volume":"72","author":"Schiffmann","year":"2009","journal-title":"Neurology."},{"issue":"10","key":"2021122205234105800_CIT0004","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1093\/brain\/awq257","article-title":"Magnetic resonance imaging pattern recognition in hypomyelinating disorders","volume":"133","author":"Steenweg","year":"2010","journal-title":"Brain."},{"issue":"4","key":"2021122205234105800_CIT0005","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ymgme.2014.12.434","article-title":"A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies","volume":"114","author":"Parikh","year":"2015","journal-title":"Mol Genet Metab."},{"key":"2021122205234105800_CIT0006","article-title":"POLR3-related leukodystrophy.","volume-title":"GeneReviews","author":"Bernard","year":"2017"},{"issue":"21","key":"2021122205234105800_CIT0007","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1212\/WNL.0000000000001002","article-title":"Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations","volume":"83","author":"Wolf","year":"2014","journal-title":"Neurology."},{"issue":"17","key":"2021122205234105800_CIT0008","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1212\/WNL.0000000000002612","article-title":"Diffuse hypomyelination is not obligate for POLR3-related disorders","volume":"86","author":"La Piana","year":"2016","journal-title":"Neurology."},{"issue":"1","key":"2021122205234105800_CIT0009","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1097\/NEN.0b013e31827c99d2","article-title":"More than hypomyelination in Pol-III disorder","volume":"72","author":"Vanderver","year":"2013","journal-title":"J Neuropathol Exp Neurol."},{"key":"2021122205234105800_CIT0010","first-page":"314594","article-title":"Endocrine aspects of 4H leukodystrophy: a case report and review of the literature","volume":"2015","author":"Billington","year":"2015","journal-title":"Case Rep Endocrinol."},{"issue":"7","key":"2021122205234105800_CIT0011","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1001\/archneurol.2011.1963","article-title":"4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations","volume":"69","author":"Potic","year":"2012","journal-title":"Arch Neurol."},{"key":"2021122205234105800_CIT0012","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s12883-015-0283-7","article-title":"Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy","volume":"15","author":"Potic","year":"2015","journal-title":"BMC Neurol."},{"issue":"2","key":"2021122205234105800_CIT0013","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1177\/0883073813503902","article-title":"Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies","volume":"29","author":"La Piana","year":"2014","journal-title":"J Child Neurol."},{"issue":"3","key":"2021122205234105800_CIT0014","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1055\/s-0037-1599141","article-title":"4H leukodystrophy: a brain magnetic resonance imaging scoring system","volume":"48","author":"Vrij-van den Bos","year":"2017","journal-title":"Neuropediatrics."},{"issue":"3","key":"2021122205234105800_CIT0015","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ajhg.2011.07.014","article-title":"Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy","volume":"89","author":"Bernard","year":"2011","journal-title":"Am J Hum Genet."},{"issue":"5","key":"2021122205234105800_CIT0016","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2011.10.006","article-title":"Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy","volume":"89","author":"T\u00e9treault","year":"2011","journal-title":"Am J Hum Genet."},{"key":"2021122205234105800_CIT0017","doi-asserted-by":"crossref","first-page":"7623","DOI":"10.1038\/ncomms8623","article-title":"Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III","volume":"6","author":"Thiffault","year":"2015","journal-title":"Nat Commun."},{"issue":"6","key":"2021122205234105800_CIT0018","doi-asserted-by":"crossref","first-page":"e289","DOI":"10.1212\/NXG.0000000000000289","article-title":"Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation","volume":"4","author":"Dorboz","year":"2018","journal-title":"Neurol Genet."},{"key":"2021122205234105800_CIT0019","doi-asserted-by":"crossref","first-page":"U89","DOI":"10.1530\/eje.0.151u089","article-title":"Application of gonadotropin releasing hormone in hypogonadotropic hypogonadism--diagnostic and therapeutic aspects","volume":"151","author":"Delemarre-van de Waal","year":"2004","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"2021122205234105800_CIT0020","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.pediatrneurol.2010.01.015","article-title":"New case of 4H syndrome and a review of the literature","volume":"42","author":"Orcesi","year":"2010","journal-title":"Pediatr Neurol."},{"issue":"6","key":"2021122205234105800_CIT0021","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1159\/000452150","article-title":"Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency","volume":"86","author":"Grimberg","year":"2016","journal-title":"Horm Res Paediatr."},{"issue":"3","key":"2021122205234105800_CIT0022","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.spen.2007.07.003","article-title":"Microcephaly syndromes","volume":"14","author":"Abuelo","year":"2007","journal-title":"Semin Pediatr Neurol."},{"issue":"2","key":"2021122205234105800_CIT0023","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1542\/peds.59.2.262","article-title":"Microcephaly in a normal school population","volume":"59","author":"Sells","year":"1977","journal-title":"Pediatrics."},{"issue":"2","key":"2021122205234105800_CIT0024","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s00062-015-0472-1","article-title":"Recessive mutations in POLR3B encoding RNA polymerase III subunit causing diffuse hypomyelination in patients with 4H leukodystrophy with polymicrogyria and cataracts","volume":"27","author":"Jurkiewicz","year":"2017","journal-title":"Clin Neuroradiol."},{"issue":"3","key":"2021122205234105800_CIT0025","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1136\/adc.83.3.207","article-title":"Prevalence and aetiology of hypothyroidism in the young","volume":"83","author":"Hunter","year":"2000","journal-title":"Arch Dis Child."}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgaa700\/34787973\/dgaa700.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/106\/2\/e660\/41848740\/dgaa700.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/106\/2\/e660\/41848740\/dgaa700.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T05:31:37Z","timestamp":1640151097000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/106\/2\/e660\/5917135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,1]]},"references-count":25,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,10,1]]},"published-print":{"date-parts":[[2021,1,23]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgaa700","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2020,10,1]]}}}