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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

✍ Scribed by Reid, Sarah; Plaja, Alberto; Firth, Helen; FitzPatrick, David; Kidd, Alexa; Méhes, Károly; Nash, Richard; Robin, Nathanial; Hanks, Sandra; Coleman, Kim

Book ID: 109919063
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 186 KB
Volume: 36
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1449

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## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with “syndromic Hirschsprung disease” with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinc