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Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6.5...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Şahin, Sezgin, Hiort, Olaf, Thiele, Susanne, Evliyaoğlu, Olcay, Tüysüz, Beyhan
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5363169/
https://ncbi.nlm.nih.gov/pubmed/27425121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3191
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