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Article

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

Journal of clinical research in pediatric endocrinology - 1 Mar 2017

Şahin Sezgin, Hiort Olaf, Thiele Susanne, Evliyaoğlu Olcay, Tüysüz Beyhan

Abstract excerpt

Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6.5 years) to 14.5 years of age. The patient had short stature, brachydactyly, and subcutaneous heterotopic...

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Source

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Identifiers

PMID: 27425121
DOI: 10.4274/jcrpe.3191
PMCID: PMC5363169

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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