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Article

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Jun 2014

Tam Vicki H K, Chen Sammy P L, Mak Chole M, Fung L M, Lee C Y, Chan Albert Y W

Abstract excerpt

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different features of Albright's hereditary osteodystrophy as well as multi-hormone resistance. We describe a Chinese woman...

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Source

Identifiers

PMID: 24914079
DOI: 10.12809/hkmj134025

Genes

GNAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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