Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and character...

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書誌詳細
出版年:Nat Genet
主要な著者: Krantz, Ian D, McCallum, Jennifer, DeScipio, Cheryl, Kaur, Maninder, Gillis, Lynette A, Yaeger, Dinah, Jukofsky, Lori, Wasserman, Nora, Bottani, Armand, Morris, Colleen A, Nowaczyk, Malgorzata J M, Toriello, Helga, Bamshad, Michael J, Carey, John C, Rappaport, Eric, Kawauchi, Shimako, Lander, Arthur D, Calof, Anne L, Li, Hui-hua, Devoto, Marcella, Jackson, Laird G
フォーマット: Artigo
言語:Inglês
出版事項: 2004
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4902017/
https://ncbi.nlm.nih.gov/pubmed/15146186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1364
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