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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 2017

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

Abstract excerpt

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 studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28323927
DOI: 10.1210/jc.2016-3836
PMCID: PMC5443324

Genes

AIRE
GCM2
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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