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Article

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.

American journal of medical genetics. Part A - 1 Nov 2010

Ngai Ying Fai, Chijiwa Chieko, Mercimek-Mahmutoglu Saadet, Stewart Laura, Yong Siu-Li, Robinson Wendy P, Gibson William T

Abstract excerpt

Pseudohypoparathyrodism (PHP) is a disorder caused by mutations in the guanine nucleotide-binding α-subunit (GNAS). We sought to determine the genetic origin of PHP1a in one affected family. We identified the previously reported Gsα R231H mutation in family members affected with PHP1a. DNA analys...

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Source

Identifiers

PMID: 20979189
DOI: 10.1002/ajmg.a.33172

Genes

GNAS
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20979189-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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