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Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome

✍ Scribed by Tanaka, Hajime; Ito, Junichi; Cho, Kazuhiko; Mikawa, Makoto


Book ID
122908040
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
352 KB
Volume
9
Category
Article
ISSN
0887-8994

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## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with β€œsyndromic 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