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[Pseudohypoparathyroidism type Ia - a novel mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jun 2010

Reis Oliveira M, Oliveira Bandeira A, Rendeiro P, Silva Borges T, Cardoso H

Abstract excerpt

Pseudohypoparathyroidism Ia (PHP-Ia) results from a specific deficiency of the alpha subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Several mutations were identified in the GNAS1 gene in individuals with PHP-Ia and pseudopseudohypoparathyroidism (PPHP). A single GNAS1 mutation may be responsible...

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PMID: 20409765
DOI: 10.1016/j.anpedi.2010.01.017

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