Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

CONTEXT: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. OBJECTIVE: The objective of this study was to identify the underlying genetic basis for isolated HYPO in a kindred in which 3 of 10 siblings were affected. SUBJECTS: We studi...

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Enregistré dans:
Détails bibliographiques
Publié dans:J Clin Endocrinol Metab
Auteurs principaux: Li, Dong, Streeten, Elizabeth A., Chan, Alice, Lwin, Wint, Tian, Lifeng, Pellegrino da Silva, Renata, Kim, Cecilia E., Anderson, Mark S., Hakonarson, Hakon, Levine, Michael A.
Format: Artigo
Langue:Inglês
Publié: Endocrine Society 2017
Sujets:
Clinical Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5443324/
https://ncbi.nlm.nih.gov/pubmed/28323927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3836
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