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Article

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Frontiers in endocrinology - 1 Jan 2022

Vado Yerai, Pereda Arrate, Manero-Azua Africa, Perez de Nanclares Guiomar

Abstract excerpt

Objective: iPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested. In rare cases, parental mosaicism has been described, but its real frequency is unknown. Design: A retrospective study including a series of 95 genetically confirmed iPPSD2 probands. Methods: The...

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Identifiers

PMID: 36686455
DOI: 10.3389/fendo.2022.1055431
PMCID: PMC9846528

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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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