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Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

✍ Scribed by Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Uri Nir; Haike Reznik-Wolf; Elon Pras

Book ID: 116195597
Publisher: American Society of Human Genetics
Year: 2008
Tongue: English
Weight: 701 KB
Volume: 82
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.04.001

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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