Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings
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چکیده
منابع مشابه
Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings.
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we descr...
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We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in it...
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ژورنال
عنوان ژورنال: Oman Medical Journal
سال: 2015
ISSN: 1999-768X,2070-5204
DOI: 10.5001/omj.2015.29