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Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype

✍ Scribed by Christiane Zweier; Denise Horn; Cornelia Kraus; Anita Rauch


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
161 KB
Volume
140A
Category
Article
ISSN
1552-4825

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## Abstract Mutations or deletions involving __ZFHX1B__ (previously __SIP1__) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and