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...

Descripción completa

Detalles Bibliográficos
Autores principales: Şahin, Sezgin, Hiort, Olaf, Thiele, Susanne, Evliyaoğlu, Olcay, Tüysüz, Beyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363169/
https://www.ncbi.nlm.nih.gov/pubmed/27425121
http://dx.doi.org/10.4274/jcrpe.3191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363169/
https://www.ncbi.nlm.nih.gov/pubmed/27425121
http://dx.doi.org/10.4274/jcrpe.3191

Ejemplares similares