Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene

Pseudohypoparathyroidism type 1A (PHP1A) is a rare disease caused by molecular defects in the maternally-inherited allele of the guanine nucleotide-binding protein, α-stimulating (GNAS) gene. The GNAS gene encodes the stimulatory G-protein α-subunit that regulates production of the second messenger...

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Publicat a:J Bone Metab
Autors principals: Kotanidou, Eleni P., Tsinopoulou, Vasiliki-Rengina, Serbis, Anastasios, Litou, Eleni, Galli-Tsinopoulou, Assimina
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society for Bone and Mineral Research 2021
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7973403/
https://ncbi.nlm.nih.gov/pubmed/33730787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11005/jbm.2021.28.1.85
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