{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:20:53Z","timestamp":1791973253878,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T00:00:00Z","timestamp":1421798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008174","name":"Yorkhill Children's Charity","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008174","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Tenovus-Scotland"},{"DOI":"10.13039\/100010269","name":"The Welcome Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80\/93) had short stature, with radiological features of SEDC (n\u2009=\u200964), others having SEMD (n\u2009=\u20095), Kniest dysplasia (n\u2009=\u20097), spondyloperipheral dysplasia (n\u2009=\u20092), or Torrance\u2010like dysplasia (n\u2009=\u20092). The remaining 13 patients had normal stature with mild SED, Stickler\u2010like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38\u201374) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto\u2010axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10\u201354) in whom flexion\u2010extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35\u201356), and retinal detachment had occurred in 12% (95% CI 6\u201321; median age 14 years; youngest age 3.5 years). Thirty\u2010two patients complained of hearing loss (37%, 95% CI 27\u201348) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype\u2013phenotype correlations in this cohort, we propose guidelines for the management and follow\u2010up in this group of disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36922","type":"journal-article","created":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T14:49:23Z","timestamp":1421851763000},"page":"461-475","source":"Crossref","is-referenced-by-count":89,"title":["A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1<\/i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype"],"prefix":"10.1002","volume":"167","author":[{"given":"Paulien A.","family":"Terhal","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutger Jan A. J.","family":"Nievelstein","sequence":"additional","affiliation":[{"name":"Department of Radiology University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva J. J.","family":"Verver","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedat","family":"Topsakal","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"van Dommelen","sequence":"additional","affiliation":[{"name":"Department of Life Style TNO Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristien","family":"Hoornaert","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospital Ghent Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[{"name":"Department of Genetics, INSERM UMR_1163, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University, Imagine Institute H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Zankl","sequence":"additional","affiliation":[{"name":"Academic Department of Medical Genetics Discipline of Genetic Medicine, The University of Sydney Sydney Children's Hospital Network (Westmead) Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen E. H.","family":"Simon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Centre University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah F.","family":"Smithson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics St. Michael's Hospital Bristol United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nijmegen Centre for Molecular Life Sciences Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Kerr","sequence":"additional","affiliation":[{"name":"Manchester Centre For Genomic Medicine, University of Manchester St Mary's Hospital Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[{"name":"Manchester Centre For Genomic Medicine, University of Manchester St Mary's Hospital Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Kinning","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Southern General Hospital Glasgow United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[{"name":"SW Thames Regional Genetics Service St George's NHS Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[{"name":"SW Thames Regional Genetics Service St George's NHS Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Goodwin","sequence":"additional","affiliation":[{"name":"Department of Genetics Nepean Hospital Penrith Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie H.","family":"van der Hout","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermine E.","family":"Veenstra\u2010Knol","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna C.","family":"Herkert","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C. M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Medical Centre University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associ\u00e9 Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR\u2010S910 Universit\u00e9 Saint\u2010Joseph Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa M.","family":"Lees","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Male","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Hurst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London United Kingdom"},{"name":"Department of Clinical Genetics Churchill Hospital Oxford United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit Department of Pediatrics Acibadem University School of Medicine Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Anner\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernie M. H. F.","family":"Bongers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nijmegen Centre for Molecular Life Sciences Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Department of Genetics, INSERM UMR_1163, Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University, Imagine Institute H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique H\u00f4pital Jeanne de Flandre Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariet W.","family":"Elting","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU University Medical Centre Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenneke","family":"van den Ende","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Antwerp University Hospital University of Antwerp Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Green","sequence":"additional","affiliation":[{"name":"National Centre for Medical Genetics and School of Medicine and Medical Science University College Dublin, Our Lady's Hospital Crumlin Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M.","family":"van Hagen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU University Medical Centre Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels Thomas","family":"Hertel","sequence":"additional","affiliation":[{"name":"H.C. Andersen Children's Hospital Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Holder\u2010Espinasse","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique H\u00f4pital Jeanne de Flandre Lille France"},{"name":"Department of Clinical Genetics Guy's Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette","family":"den Hollander","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Homfray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne D.","family":"Hove","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Churchill Hospital Oxford United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas\u2010Rothschild","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Meir Medical Centre, Kfar Saba, and Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Rohrbach","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Centre, Connective Tissue Unit University Children's Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Schroeter","sequence":"additional","affiliation":[{"name":"Kinderspital L\u0171zern L\u0171zern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Nottingham Clinical Genetics Service, City Hospital Campus Nottingham University Hospitals NHS Trust Nottingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"Thompson","sequence":"additional","affiliation":[{"name":"SA Clinical Genetics, SA Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia and Department of Paediatrics University of Adelaide Adelaide North Terrace, South Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward S.","family":"Tobias","sequence":"additional","affiliation":[{"name":"Medical Genetics, School of Medicine, Coll Med Vet and Life Sci University of Glasgow Glasgow Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pital Bretonneau Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike","family":"Vreeburg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetic Service North West London Hospitals NHS Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coucke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ghent University Hospital Ghent Belgium"},{"name":"Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert R.","family":"Mortier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Antwerp University Hospital University of Antwerp Edegem Belgium"},{"name":"Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000202758.61848.61"},{"key":"e_1_2_6_3_1","first-page":"1128","article-title":"Expression, in cartilage, of a 7\u2010amino\u2010acid deletion in type II collagen from two unrelated individuals with kniest dysplasia","volume":"55","author":"Bogaert R","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(90)90235-X"},{"key":"e_1_2_6_5_1","first-page":"493","article-title":"Uses and abuses of hearing loss classification","volume":"23","author":"Clark JG","year":"1981","journal-title":"ASHA"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1998.0745"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<34::AID-AJMG9>3.0.CO;2-S"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1982.01030040082015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.23"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-199311000-00021"},{"key":"e_1_2_6_11_1","volume-title":"Keats and Kahn's Roentgen Atlas of Skeletal Maturation, DVD\u2010ROM Ed","author":"Kahn SL","year":"2007"},{"key":"e_1_2_6_12_1","first-page":"p1408","volume-title":"Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal dysplasias, 5e","author":"Lachman RS","year":"2007"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000143621.37688.f3"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004020050295"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20179"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.242"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.2.283"},{"key":"e_1_2_6_18_1","first-page":"598","article-title":"Dysplasia spondyloepiphysaria congenita","author":"Spranger J","year":"1966","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<79::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195396089.001.0001"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/17453678809149348"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-0081-6"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1991.tb01877.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31332"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2012.01.030"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31516"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.8.4761"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<105::AID-AJMG2>3.0.CO;2-Z"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0493-323"},{"key":"e_1_2_6_30_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1302\/0301-620X.64B4.6807992","article-title":"Two clinical variants of spondylo\u2010epiphyseal dysplasia congenita","volume":"64","author":"Wynne\u2010Davies R","year":"1982","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(03)00713-X"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30222"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.08.090"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36922","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36922","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:49:45Z","timestamp":1696618185000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,21]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36922"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36922","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,21]]}}}