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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Detalles Bibliográficos
Autores principales: Thiele, Susanne, Werner, Ralf, Grötzinger, Joachim, Brix, Bettina, Staedt, Pia, Struve, Dagmar, Reiz, Benedikt, Farida, Jennane, Hiort, Olaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367083/
https://www.ncbi.nlm.nih.gov/pubmed/25802881
http://dx.doi.org/10.1002/mgg3.117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367083/
https://www.ncbi.nlm.nih.gov/pubmed/25802881
http://dx.doi.org/10.1002/mgg3.117

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