{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:54:35Z","timestamp":1791903275092,"version":"4.3.4"},"reference-count":66,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T00:00:00Z","timestamp":1101859200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3152,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,12]]},"DOI":"10.1086\/426462","type":"journal-article","created":{"date-parts":[[2004,11,3]],"date-time":"2004-11-03T14:55:17Z","timestamp":1099493717000},"page":"1079-1093","source":"Crossref","is-referenced-by-count":430,"title":["Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation"],"prefix":"10.1016","volume":"75","author":[{"given":"Linda S.","family":"Weaving","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L.","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathie L.","family":"Friend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia L.D.","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Archer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory J.","family":"Pelka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick P.L.","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Watson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hooshang","family":"Lahooti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn J.","family":"Ellaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce","family":"Bennetts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"G\u00e9cz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/426462_bib8","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib9","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F","article-title":"Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes","volume":"47","author":"Amir","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1086\/426462_bib10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1177\/088307380201700105","article-title":"Rett syndrome: clinical manifestations in males with MECP2 mutations","volume":"17","author":"Ben Zeev","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1086\/426462_bib11","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/hmg\/11.8.981","article-title":"ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation","volume":"11","author":"Bienvenu","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/426462_bib12","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1101\/gr.9.5.437","article-title":"Genomic structure and comparative analysis of nine fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1","volume":"9","author":"Brunner","year":"1999","journal-title":"Genome Res"},{"key":"10.1086\/426462_bib13","doi-asserted-by":"crossref","first-page":"4364","DOI":"10.1093\/nar\/28.21.4364","article-title":"Analysis of canonical and non-canonical splice sites in mammalian genomes","volume":"28","author":"Burset","year":"2000","journal-title":"Nucleic Acid Res"},{"key":"10.1086\/426462_bib14","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<27::AID-AJMG3>3.0.CO;2-O","article-title":"An assay for X inactivation based on differential methylation at the fragile X locus","volume":"64","author":"Carrel","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib15","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1086\/426462_bib16","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/9.7.1119","article-title":"Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location","volume":"9","author":"Cheadle","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/426462_bib17","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/85906","article-title":"Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice","volume":"27","author":"Chen","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/426462_bib18","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1126\/science.1086446","article-title":"Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2","volume":"302","author":"Chen","year":"2003","journal-title":"Science"},{"key":"10.1086\/426462_bib19","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1006\/dbio.1999.9276","article-title":"Impact of node ablation on the morphogenesis of the body axis and the lateral asymmetry of the mouse embryo during early organogenesis","volume":"211","author":"Davidson","year":"1999","journal-title":"Dev Biol"},{"key":"10.1086\/426462_bib20","unstructured":"Ellaway CJ (2001) Rett syndrome: diagnostic strategies and therapeutic interventions. PhD thesis, University of Sydney, Westmead."},{"key":"10.1086\/426462_bib21","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ajmg.10628","article-title":"Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome","volume":"112","author":"Frints","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib22","doi-asserted-by":"crossref","first-page":"2899","DOI":"10.1182\/blood.V83.10.2899.2899","article-title":"Tissue specificity of X-chromosome inactivation patterns","volume":"83","author":"Gale","year":"1994","journal-title":"Blood"},{"key":"10.1086\/426462_bib23","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1055\/s-2002-23598","article-title":"MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings","volume":"33","author":"Geerdink","year":"2002","journal-title":"Neuropediatrics"},{"key":"10.1086\/426462_bib24","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1136\/jmg.40.5.380","article-title":"Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome","volume":"40","author":"Gill","year":"2003","journal-title":"J Med Genet"},{"key":"10.1086\/426462_bib25","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/S0387-7604(87)80073-6","article-title":"New experience with Rett syndrome in France: the problem of atypical cases","volume":"9","author":"Gouti\u00e9res","year":"1987","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib26","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/85899","article-title":"A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome","volume":"27","author":"Guy","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/426462_bib27","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/S0387-7604(85)80048-6","article-title":"Rett syndrome: criteria for inclusion and exclusion","volume":"7","author":"Hagberg","year":"1985","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib28","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria for Rett syn drome: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001","volume":"6","author":"Hagberg","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1086\/426462_bib29","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ajmg.1320250520","article-title":"\u201cForm fruste\u201d of Rett syndrome\u2014a case report","volume":"24","author":"Hagberg","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib30","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0887-8994(94)90082-5","article-title":"Rett variants: a suggested model for inclusion criteria","volume":"11","author":"Hagberg","year":"1994","journal-title":"Pediatr Neurol"},{"key":"10.1086\/426462_bib31","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/mrdd.10023","article-title":"The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome","volume":"8","author":"Hammer","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1086\/426462_bib32","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1212\/WNL.56.11.1486","article-title":"MECP2 mutations in children with and without the phenotype of Rett syndrome","volume":"56","author":"Hoffbuhr","year":"2001","journal-title":"Neurology"},{"key":"10.1086\/426462_bib33","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/mrdd.10026","article-title":"Associations between MECP2 mutations, X-chromosome inactivation, and phenotype","volume":"8","author":"Hoffbuhr","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1086\/426462_bib34","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L","article-title":"Characterisation of two unusual RS1 gene deletions segregating in Danish retinoschisis families","volume":"16","author":"Huopaniemi","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1086\/426462_bib35","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/9.9.1369","article-title":"Rett syndrome: analysis of MECP2 and clinical characterisation of 31 patients","volume":"9","author":"Huppke","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/426462_bib36","doi-asserted-by":"crossref","first-page":"S161","DOI":"10.1016\/S0387-7604(01)00344-8","article-title":"The role of different X-inactivation patterns on the variable clinical phenotype with Rett syndrome","volume":"23","author":"Ishii","year":"2001","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib37","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","article-title":"Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation","volume":"72","author":"Kalscheuer","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib38","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/humu.10310","article-title":"Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation","volume":"23","author":"Kato","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1086\/426462_bib39","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s004390050698","article-title":"X chromosome-inactivation patterns in patients with Rett syndrome","volume":"102","author":"Krepischi","year":"1998","journal-title":"Hum Genet"},{"key":"10.1086\/426462_bib40","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1093\/nar\/gkh349","article-title":"The major form of MeCP2 has a novel N-terminus generated by alternative splicing","volume":"32","author":"Kriaucionis","year":"2004","journal-title":"Nucleic Acid Res"},{"key":"10.1086\/426462_bib41","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/S0006-8993(03)02968-8","article-title":"A possible novel mechanism underlying temperature-dependent uptake of [3H]spermidine in nuclear fractions of murine brain","volume":"981","author":"Kuramoto","year":"2003","journal-title":"Brain Res"},{"key":"10.1086\/426462_bib42","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/humu.20004","article-title":"Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome","volume":"23","author":"Laccone","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1086\/426462_bib43","first-page":"8","article-title":"The prevalence and incidence of Rett syndrome in Australia","volume":"6","author":"Leonard","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1086\/426462_bib44","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1177\/088307380101600505","article-title":"Occurrence of Rett syndrome in boys","volume":"16","author":"Leonard","year":"2001","journal-title":"J Child Neurol"},{"key":"10.1086\/426462_bib45","first-page":"647","article-title":"Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome","volume":"56","author":"Migeon","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib46","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/S0387-7604(97)00052-1","article-title":"Classical Rett syndrome in sisters: variability of clinical expression","volume":"19","author":"Miyamoto","year":"1997","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib47","first-page":"1","article-title":"A previously unidentified MECP2 open reading frame defines a new pro tein isoform relevant to Rett syndrome","volume":"36","author":"Mnatzakanian","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/426462_bib48","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1006\/geno.1998.5391","article-title":"Identification and characterisation of a novel serine-threonine kinase gene from the Xp22 region","volume":"51","author":"Montini","year":"1998","journal-title":"Genomics"},{"key":"10.1086\/426462_bib49","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.0009-9163.2004.00268.x","article-title":"Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX","volume":"66","author":"Partington","year":"2004","journal-title":"Clin Genet"},{"key":"10.1086\/426462_bib50","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1086\/341123","article-title":"Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders","volume":"71","author":"Plenge","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib51","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1056\/NEJM199801293380611","article-title":"X inactivation in females with X-linked disease","volume":"338","author":"Puck","year":"1998","journal-title":"New Engl J Med"},{"key":"10.1086\/426462_bib52","volume":"Vol 3","author":"Sambrook","year":"1989"},{"key":"10.1086\/426462_bib53","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","article-title":"RNA splice junctions of different classes of eukaryotes: sequence statistics and func tional implications in gene expression","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acid Res"},{"key":"10.1086\/426462_bib54","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/(SICI)1096-8628(19970531)74:3<331::AID-AJMG16>3.0.CO;2-P","article-title":"Additional clinical and cytogenetic findings associated with Rett syndrome","volume":"74","author":"Simonic","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib55","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/S0387-7604(97)00572-X","article-title":"Rett syndrome: geographic variation in prevalence in Norway","volume":"19","author":"Skjeldal","year":"1997","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib56","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1651-2227.2001.tb00252.x","article-title":"Epilepsy in a representative series of Rett syndrome","volume":"90","author":"Steffenburg","year":"2001","journal-title":"Acta Paediatr"},{"key":"10.1086\/426462_bib57","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/S0387-7604(02)00079-7","article-title":"Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.","volume":"24","author":"Str\u00f8mme","year":"2002","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib58","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng862","article-title":"Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy","volume":"30","author":"Str\u00f8mme","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/426462_bib59","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1111\/j.1651-2227.1995.tb13827.x","article-title":"Rett syndrome in Estonia: prevalence of the classical phenotype","volume":"84","author":"Talvik","year":"1995","journal-title":"Acta Paediatr"},{"key":"10.1086\/426462_bib60","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng0293-170","article-title":"X-chrom osome inactivation occurs at different times in different tissues of the post-implantation mouse embryo","volume":"3","author":"Tan","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/426462_bib61","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1086\/426460","article-title":"Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation","volume":"75","author":"Tao","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib62","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0387-7604(95)00002-S","article-title":"The prevalence of Rett syndrome in Fukui prefecture","volume":"17","author":"Terai","year":"1995","journal-title":"Brain Dev"},{"key":"10.1086\/426462_bib63","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.10714","article-title":"Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation","volume":"112","author":"Turner","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib64","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0959-437X(00)00083-6","article-title":"Methyl-CpG-binding protein 2 mutations in Rett syndrome","volume":"10","author":"Van den Veyver","year":"2000","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/426462_bib65","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1212\/WNL.55.8.1188","article-title":"Two affected boys in a Rett syndrome family\u2014clinical and molecular findings","volume":"55","author":"Villard","year":"2000","journal-title":"Neurology"},{"key":"10.1086\/426462_bib66","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1136\/jmg.38.7.435","article-title":"Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease","volume":"38","author":"Villard","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/426462_bib67","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1086\/302690","article-title":"Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots","volume":"65","author":"Wan","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib68","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ajmg.a.10053","article-title":"Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype","volume":"118A","author":"Weaving","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib69","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.38.4.217","article-title":"Rett syndrome and the MECP2 gene","volume":"38","author":"Webb","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/426462_bib70","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1086\/382228","article-title":"X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome","volume":"74","author":"Young","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1086\/426462_bib71","first-page":"23","article-title":"The preserved speech variant of the Rett complex: a report of 8 cases","volume":"6","author":"Zappella","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1086\/426462_bib72","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/ajmg.1320350131","article-title":"A de novo X;3 translocation in Rett syndrome","volume":"35","author":"Zoghbi","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1086\/426462_bib73","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0387-7604(12)80194-X","article-title":"Patterns of X chromosome inactivation in the Rett syndrome","volume":"12","author":"Zoghbi","year":"1990","journal-title":"Brain Dev"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707600755?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707600755?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T22:13:36Z","timestamp":1682806416000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707600755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12]]},"references-count":66,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["S0002929707600755"],"URL":"https:\/\/doi.org\/10.1086\/426462","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,12]]}}}