Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

CONTEXT: Most cases of autosomal dominant isolated hypoparathyroidism are caused by gain-of-function mutations in CASR or GNA11 or dominant negative mutations in GCM2 or PTH. OBJECTIVE: To identify the genetic etiology for dominantly transmitted isolated hypoparathyroidism in two multigenerational f...

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Detalles Bibliográficos
Publicado en:J Clin Endocrinol Metab
Main Authors: Li, Dong, Gordon, Christopher T, Oufadem, Myriam, Amiel, Jeanne, Kanwar, Harsh S, Bakay, Marina, Wang, Tiancheng, Hakonarson, Hakon, Levine, Michael A
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2018
Assuntos:
Clinical Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6194809/
https://ncbi.nlm.nih.gov/pubmed/30137364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01260
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