Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-ol...

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Detalhes bibliográficos
Main Authors: Lee, Ye Seung, Kim, Hui Kwon, Kim, Hye Rim, Lee, Jong Yoon, Choi, Joong Wan, Bae, Eun Ju, Oh, Phil Soo, Park, Won Il, Ki, Chang Seok, Lee, Hong Jin
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102687/
https://ncbi.nlm.nih.gov/pubmed/25045367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.5.240
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