Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of GNAS, which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of GNAS (c.1141delG, p.Asp381Thrfs*23 and c.1117de...

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Detalles Bibliográficos
Autores principales: Ohata, Yasuhisa, Kakimoto, Haruna, Seki, Yuko, Ishihara, Yasuki, Nakano, Yukako, Yamamoto, Kenichi, Takeyari, Shinji, Fujiwara, Makoto, Kitaoka, Taichi, Takakuwa, Satoshi, Kubota, Takuo, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668531/
https://www.ncbi.nlm.nih.gov/pubmed/36407415
http://dx.doi.org/10.1016/j.bonr.2022.101637

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