Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Mutations in ZFHX1B, encoding Smad-interacting protein 1 (SIP1), have been recently reported to cause a form of Hirschsprung disease (HSCR). Patients with ZFHX1B deficiency typically show mental retardation, delayed motor development, epilepsy, microcephaly, distinct facial features, and/or congenit...

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Hlavní autoři: Yamada, Kenichiro, Yamada, Yasukazu, Nomura, Noriko, Miura, Kiyokuni, Wakako, Rie, Hayakawa, Chiemi, Matsumoto, Akiko, Kumagai, Toshiyuki, Yoshimura, Ikuko, Miyazaki, Shuji, Kato, Kanefusa, Sonta, Shin-ichi, Ono, Hiroshi, Yamanaka, Tsutomu, Nagaya, Masahiro, Wakamatsu, Nobuaki
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235530/
https://ncbi.nlm.nih.gov/pubmed/11592033
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