Open AccessDefective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B
Author(s) -
Dov Hershkovitz,
Hannah Mandel,
Akemi IshidaYamamoto,
Ilana Chefetz,
B. Hino,
Anthony Luder,
Margarita Indelman,
Richard N. Bergman,
Eli Sprecher
Publication year - 2008
Publication title -
archives of dermatology
Language(s) - English
Resource type - Journals
eISSN - 1538-3652
pISSN - 0003-987X
DOI - 10.1001/archderm.144.3.334
Subject(s) - missense mutation , biology , ichthyosis , exon , genetics , microbiology and biotechnology , mutation , gene
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.
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