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Article

Genetics of pseudohypoparathyroidism types Ia and Ic.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

Aldred Micheala A

Abstract excerpt

Pseudohypoparathyroidism (PHP) types Ia and Ic result from heterozygous inactivating mutations of Gs alpha, the alpha-subunit of the heterotrimeric stimulatory G-protein, Gs. Both are characterized by a combination of Albright's hereditary osteodystrophy and, when the mutation is maternally inherited, end-organ resistance to multiple hormones. Due to complex tissue-specific imprinting of Gs alpha,...

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PMID: 16789628
DOI: 10.1515/jpem.2006.19.s2.635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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