Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a

INTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequenci...

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Detalles Bibliográficos
Autores principales: Moutinho, Adelaide, Carvalho, Rosa, Ferreira Reis, Rita, Tavares, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896320/
https://www.ncbi.nlm.nih.gov/pubmed/29796323
http://dx.doi.org/10.1155/2018/7813591

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