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OCRL1mutation in a boy with Dent disease, mild mental retardation, but without cataracts

✍ Scribed by Vladimir J. Lozanovski; N. Ristoska-Bojkovska; P. Korneti; Z. Gucev; V. Tasic


Publisher
SP Children’s Hospital, Zhejiang University School of Medicine
Year
2011
Tongue
English
Weight
203 KB
Volume
7
Category
Article
ISSN
1708-8569

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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