Article
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
Archives of dermatology - 1 Mar 2008
Hershkovitz Dov, Mandel Hannah, Ishida-Yamamoto Akemi, Chefetz Ilana, Hino Bayan, Luder Anthony, Indelman Margarita, Bergman Reuven, Sprecher Eli
Abstract excerpt
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare and usually fatal metabolic autosomal recessive disorder, which has recently been shown to result from mutations in VPS33B located on chromosome 15q26.1. Neurological signs and ichthyosis almost invariably accompany the disease. OBSERVATIONS: We assessed a consanguineous family with 2 identical twins affected with ARC...
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