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Article

[Albright hereditary osteodystrophy: identification of a novel mutation in a family].

Anales espanoles de pediatria - 1 Jun 2001

Bastida Eizaguirre M, Iturbe Ortiz De Urbina R, Arto Urzainqui M, Ezquerra Larreina R, Escalada San Martín J

Abstract excerpt

Studies to detect mutations in the GNAS1 gene were performed in a male patient with features of Albright hereditary osteodystrophy and resistance of target tissues to parathyroid hormone (Pseudohypoparathyroidism Ia). The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone...

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PMID: 11412411

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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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