A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO) leading to pseudohypoparathyroidism type Ia (PHPIa) due to Gsα deficiency. Paternally inherited inactivating mutations lead to isolated AHO...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Thiele, Susanne, Werner, Ralf, Grötzinger, Joachim, Brix, Bettina, Staedt, Pia, Struve, Dagmar, Reiz, Benedikt, Farida, Jennane, Hiort, Olaf
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4367083/
https://ncbi.nlm.nih.gov/pubmed/25802881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.117
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