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Article

Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.

The Journal of clinical endocrinology and metabolism - 1 Apr 2004

de Sanctis Luisa, Vai Sergio, Andreo Maria Rita, Romagnolo Damiano, Silvestro Leandra, de Sanctis Carlo

Abstract excerpt

Brachydactyly, classically described as shortening of III, IV, and V metacarpals and I distal phalanx, is the typical and most specific sign of Albright's hereditary osteodystrophy, a peculiar phenotype reported in subjects with pseudohypoparathyroidism type Ia (PHP-Ia) caused by mutations in the...

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Source

Identifiers

PMID: 15070926
DOI: 10.1210/jc.2003-030850

Genes

GNAS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15070926-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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