A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype

Pseudohypoparathyroidism (PHP) is a heterogeneous orphan disease characterized by multihormonal resistance and several phenotypic features. In some cases, PHP is caused by a mutation in the <i>GNAS</i> that encodes the alpha subunit of the G protein, one of the key transmitters of intrac...

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Bibliographic Details
Main Authors: Anna Gorbacheva, Tatyana Pogoda, Viktor Bogdanov, Victoriya Zakharova, Rustam Salimkhanov, Anna Eremkina, Galina Melnichenko, Natalia Mokrysheva
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
GNAS protein
pseudohypoparathyroidism
genetic diseases
case report
Online Access:https://www.mdpi.com/2073-4425/14/2/324

Internet

https://www.mdpi.com/2073-4425/14/2/324

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