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A missense mutation in FIC1 is associated with greenland familial cholestasis

โœ Scribed by Leo W.J. Klomp; Laura N. Bull; Alexander S. Knisely; Marjolein A.M. van der Doelen; Jenneke A. Juijn; Ruud Berger; Sylviane Forget; Inge-Merete Nielsen; Hans Eiberg; Roderick H.J. Houwen


Book ID
111721235
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
437 KB
Volume
32
Category
Article
ISSN
0270-9139

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## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.