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Article

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Journal of medical genetics - 1 Feb 1997

Wilson L C, Oude Luttikhuis M E, Baraitser M, Kingston H M, Trembath R C

Abstract excerpt

Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of the signal transducing protein, Gs, and heterozygous deactivating mutations have been shown in the...

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Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gs

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Identifiers

PMID: 9039990
DOI: 10.1136/jmg.34.2.133
PMCID: PMC1050867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.PMID 9039990Read ↗

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