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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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| 出版年: | J Clin Endocrinol Metab |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2017
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| 主題: | |
| オンライン･アクセス: | 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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