Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

BACKGROUND: Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to pseudo-pseudohypoparathyroidism (PPHP) when i...

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Detalles Bibliográficos
Autores principales: Zhou, Qing, Liang, Bin, Fu, Qing-Xian, Liu, Hui, Zou, Chao-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308320/
https://www.ncbi.nlm.nih.gov/pubmed/35871092
http://dx.doi.org/10.1186/s13052-022-01322-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308320/
https://www.ncbi.nlm.nih.gov/pubmed/35871092
http://dx.doi.org/10.1186/s13052-022-01322-6

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