{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:32:51Z","timestamp":1791329571604,"version":"4.3.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,8,24]],"date-time":"2010-08-24T00:00:00Z","timestamp":1282608000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1007\/s10048-010-0255-4","type":"journal-article","created":{"date-parts":[[2010,8,23]],"date-time":"2010-08-23T06:12:19Z","timestamp":1282543939000},"page":"1-8","source":"Crossref","is-referenced-by-count":36,"title":["A FOXG1 mutation in a boy with congenital variant of Rett syndrome"],"prefix":"10.1007","volume":"12","author":[{"given":"Tangui","family":"Le Guen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Fichou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Diebold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Raqbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie Cormier","family":"Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,8,24]]},"reference":[{"key":"255_CR1","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1007\/s00439-005-1310-3","volume":"117","author":"SA Shoichet","year":"2005","unstructured":"Shoichet SA, Kunde SA, Viertel P et al (2005) Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 117:536\u2013544","journal-title":"Hum Genet"},{"key":"255_CR2","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1002\/ajmg.a.31425","volume":"140","author":"AM Bisgaard","year":"2006","unstructured":"Bisgaard AM, Kirchhoff M, Tumer Z et al (2006) Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A 140:2180\u20132187","journal-title":"Am J Med Genet A"},{"key":"255_CR3","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1002\/ajmg.a.32413","volume":"146A","author":"FT Papa","year":"2008","unstructured":"Papa FT, Mencarelli MA, Caselli R et al (2008) A 3\u00a0Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A 146A:1994\u20131998","journal-title":"Am J Med Genet A"},{"key":"255_CR4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ejmg.2009.03.004","volume":"52","author":"MA Mencarelli","year":"2009","unstructured":"Mencarelli MA, Kleefstra T, Katzaki E et al (2009) 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet 52:148\u2013152","journal-title":"Eur J Med Genet"},{"key":"255_CR5","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","volume":"83","author":"F Ariani","year":"2008","unstructured":"Ariani F, Hayek G, Rondinella D et al (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83:89\u201393","journal-title":"Am J Hum Genet"},{"key":"255_CR6","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/9.9.1369","volume":"9","author":"P Huppke","year":"2000","unstructured":"Huppke P, Laccone F, Kramer N et al (2000) Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9:1369\u20131375","journal-title":"Hum Mol Genet"},{"issue":"Suppl 1","key":"255_CR7","doi-asserted-by":"crossref","first-page":"S251","DOI":"10.1016\/S0387-7604(01)00374-6","volume":"23","author":"E Monros","year":"2001","unstructured":"Monros E, Armstrong J, Aibar E et al (2001) Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 23(Suppl 1):S251\u2013S253","journal-title":"Brain Dev"},{"key":"255_CR8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.a.20321","volume":"122A","author":"E Smeets","year":"2003","unstructured":"Smeets E, Schollen E, Moog U et al (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A 122A:227\u2013233","journal-title":"Am J Med Genet A"},{"key":"255_CR9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/jmg.2009.067884","volume":"47","author":"M Mencarelli","year":"2010","unstructured":"Mencarelli M, Spanhol-Rosseto A, Artuso R et al (2010) Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 47:49\u201353","journal-title":"J Med Genet"},{"key":"255_CR10","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.2009.067355","volume":"47","author":"C Philippe","year":"2010","unstructured":"Philippe C, Amsallem D, Francannet C et al (2010) Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet 47:59\u201365","journal-title":"J Med Genet"},{"key":"255_CR11","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s10048-009-0220-2","volume":"11","author":"N Bahi-Buisson","year":"2010","unstructured":"Bahi-Buisson N, Nectoux J, Girard B et al (2010) Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 11:241\u2013249","journal-title":"Neurogenetics"},{"key":"255_CR12","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0887-8994(94)90082-5","volume":"11","author":"BA Hagberg","year":"1994","unstructured":"Hagberg BA, Skjeldal OH (1994) Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 11:5\u201311","journal-title":"Pediatr Neurol"},{"key":"255_CR13","unstructured":"Nuel JL, Kaufmann WE, Glaze DG et al (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol (in press)"},{"key":"255_CR14","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1006\/geno.1994.1313","volume":"21","author":"DB Murphy","year":"1994","unstructured":"Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schutz-Schaeffer W, Thies U (1994) Human brain factor 1, a new member of the fork head gene family. Genomics 21:551\u2013557","journal-title":"Genomics"},{"key":"255_CR15","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1038\/ejhg.2009.95","volume":"17","author":"FD Jacob","year":"2009","unstructured":"Jacob FD, Ramaswamy V, Andersen J, Bolduc FV (2009) Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 17:1577\u20131581","journal-title":"Eur J Hum Genet"},{"key":"255_CR16","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ejmg.2009.09.004","volume":"52","author":"A Yeung","year":"2009","unstructured":"Yeung A, Bruno D, Scheffer IE et al (2009) 54.45\u00a0Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 52:440\u2013442","journal-title":"Eur J Med Genet"},{"key":"255_CR17","first-page":"30","volume":"37","author":"P Grammatico","year":"1994","unstructured":"Grammatico P, de Sanctis S, di Rosa C, Cupilari F, del Porto G (1994) First case of deletion 14q11.2q13: clinical phenotype. Ann G\u00e9n\u00e9t 37:30\u201332","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"255_CR18","first-page":"233","volume":"36","author":"S Schuffenhauer","year":"1999","unstructured":"Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P (1999) De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. J Med Genet 36:233\u2013236","journal-title":"J Med Genet"},{"key":"255_CR19","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/ana.21579","volume":"65","author":"C Vaurs-Barri\u00e8re","year":"2009","unstructured":"Vaurs-Barri\u00e8re C, Deville M, Sarret C et al (2009) Pelizaeus\u2013Merzbacher-like disease presentation of MCT8 mutated male subjects. Ann Neurol 65:114\u2013118","journal-title":"Ann Neurol"},{"key":"255_CR20","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1056\/NEJMoa0900591","volume":"361","author":"R Wibom","year":"2009","unstructured":"Wibom R, Lasorsa FM, T\u00f6h\u00f6nen V et al (2009) AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med 361:489\u2013495","journal-title":"N Engl J Med"},{"key":"255_CR21","first-page":"1466","volume":"9","author":"MS Knaap Van der","year":"2002","unstructured":"Van der Knaap MS, Naidu S, Pouwels PJ et al (2002) New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Neuroradiol 9:1466\u20131474","journal-title":"Am J Neuroradiol."},{"key":"255_CR22","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1055\/s-2007-985137","volume":"38","author":"NI Wolf","year":"2007","unstructured":"Wolf NI, Harting I, Innes AM et al (2007) Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics 38:64\u201370","journal-title":"Neuropediatrics"},{"key":"255_CR23","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/ana.21175","volume":"62","author":"R Biancheri","year":"2007","unstructured":"Biancheri R, Zara F, Bruno C et al (2007) Phenotypic characterization of hypomyelination and congenital cataract. Ann Neuro 62:121\u2013127","journal-title":"Ann Neuro"},{"key":"255_CR24","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1038\/ng1870","volume":"38","author":"F Zara","year":"2006","unstructured":"Zara F, Biancheri R, Bruno C et al (2006) Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 38:1111\u20131113","journal-title":"Nat Genet"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-010-0255-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-010-0255-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-010-0255-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:02:36Z","timestamp":1559116956000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-010-0255-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,24]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["255"],"URL":"https:\/\/doi.org\/10.1007\/s10048-010-0255-4","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,24]]}}}