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Investigating patients with a congenital variant of RTT that show evidence of hypotonia and developmental delay from birth, the investigators found novel mutations in the autosomal gene FOXG1, encoding a transcription factor with expression restricted to fetal and adult brain and testes. MeCP2 and FOXG1 might share common molecular mechanisms because of their similar expression patterns and nuclear localization.","journal-title":"Am J Hum Genet"},{"key":"97_CR8","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1177\/088307389801300507","volume":"13","author":"NC Schanen","year":"1998","unstructured":"Schanen NC, Kurczynski TW, Brunelle D, et al.: Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. 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This was an unusual case report describing the maternal transmission of an RTT-causing MECP2 mutation and skewed XCI; however, the mother\u2019s preferentially inactivated allele was the wild-type allele and could not explain the apparently normal phenotype of the mother.","journal-title":"Clin Genet"},{"key":"97_CR14","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1177\/0883073807307077","volume":"23","author":"X Bao","year":"2008","unstructured":"\u2022 Bao X, Jiang S, Song F, et al.: X chromosome inactivation in Rett syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol 2008, 23:22\u201325. 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This study reported that a common polymorphism of BDNF, a known MeCP2 target gene, was significantly associated with severity in R168X MECP2-mutant RTT patients, providing evidence for an independent genetic modifier effect.","journal-title":"Neurology"}],"container-title":["Current Psychiatry Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.springerlink.com\/index\/pdf\/10.1007\/s11920-010-0097-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T09:01:32Z","timestamp":1551258092000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11920-010-0097-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,24]]},"references-count":51,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["97"],"URL":"https:\/\/doi.org\/10.1007\/s11920-010-0097-7","relation":{},"ISSN":["1523-3812","1535-1645"],"issn-type":[{"value":"1523-3812","type":"print"},{"value":"1535-1645","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,24]]}}}