An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations. We therefore characterized this region by combined analysis of single nucleotide polymorphisms a...

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Detalhes bibliográficos
Main Authors: Bowl, Michael R., Nesbit, M. Andrew, Harding, Brian, Levy, Elaine, Jefferson, Andrew, Volpi, Emanuela, Rizzoti, Karine, Lovell-Badge, Robin, Schlessinger, David, Whyte, Michael P., Thakker, Rajesh V.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2005
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1201662/
https://ncbi.nlm.nih.gov/pubmed/16167084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI24156
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