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Article

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

American journal of medical genetics. Part A - 1 Aug 2004

Chassaing N, De Mas P, Tauber M, Vincent M C, Julia S, Bourrouillou G, Calvas P, Bieth E

Abstract excerpt

The Albright hereditary osteodystrophy-like (AHO-like) syndrome was recently defined as a rare dysmorphic syndrome including brachymetaphalangism and mental retardation. This phenotype occurs in Albright hereditary osteodystrophy (AHO) but unlike it, the level of the Gs alpha protein activity is not reduced. To date 59 patients with these clinical and biochemical features have been reported, and for the majority...

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Source

Identifiers

PMID: 15264288
DOI: 10.1002/ajmg.a.30199

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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