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Article

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Acta bio-medica : Atenei Parmensis - 1 Apr 2005

Garavelli Livia, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis Raffaele, Banchini G

Abstract excerpt

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of...

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Source

Identifiers

PMID: 16116826

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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