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Heterozygous mutations inSIX3andSHHare associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

✍ Scribed by Ute Hehr; Daniel E. Pineda-Alvarez; Goekhan Uyanik; Ping Hu; Nan Zhou; Andreas Hehr; Chayim Schell-Apacik; Carola Altus; Cornelia Daumer-Haas; Annechristin Meiner; Peter Steuernagel; Erich Roessler; Juergen Winkler; Maximilian Muenke


Book ID
106134961
Publisher
Springer
Year
2010
Tongue
English
Weight
307 KB
Volume
127
Category
Article
ISSN
0340-6717

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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