Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

BACKGROUND: Pseudohypoparathyroidism (PHP) defines a rare group of disorders whose common feature is resistance to the parathyroid hormone. Patients with PHP-Ia display additional hormone resistance, Albright hereditary osteodystrophy (AHO) and reduced Gsα activity in easily accessible cells. This f...

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Autori principali: Lecumberri, B, Fernández-Rebollo, E, Sentchordi, L, Saavedra, P, Bernal-Chico, A, Pallardo, L F, Jiménez Bustos, J M, Castaño, L, de Santiago, M, Hiort, O, Pérez de Nanclares, G, Bastepe, M
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3030964/
https://ncbi.nlm.nih.gov/pubmed/19858129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.071001
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