Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a Novel ANKH Mutation in a Consanguineous Family

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...

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Bibliografske podrobnosti
izdano v:J Clin Endocrinol Metab
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2011
Teme:
JCEM Online: Advances in the Genetics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393418/
https://ncbi.nlm.nih.gov/pubmed/20943778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1539
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