Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
The Journal of clinical endocrinology and metabolism - 1 Jan 2011
Morava Eva, Kühnisch Jirko, Drijvers Jefte M, Robben Joris H, Cremers Cor, van Setten Petra, Branten Amanda, Stumpp Sabine, de Jong Alphons, Voesenek Krysta, Vermeer Sascha, Heister Angelien, Claahsen-van der Grinten Hedi L, O'Neill Charles W, Willemsen Michèl A, Lefeber Dirk, Deen Peter M T, Kornak Uwe, Kremer Hannie, Wevers Ron A
Abstract excerpt
CONTEXT: Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space. OBJECTIVE: We evaluated several family members of a large consanguineous family with mental retardation, deafness, and ankylosis. We compared their skeletal,...
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