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Article

A novel mutation in a case of pseudohypoparathyroidism type Ia.

The Turkish journal of pediatrics - 1 Jan 2016

Kırel Birgül, Demiral Meliha, Bozdağ Özkan, Karaer Kadri

Abstract excerpt

Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His...

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Source

Identifiers

PMID: 27922245
DOI: 10.24953/turkjped.2016.01.016

Genes

PTH
GNAS

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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