Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in t...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Yingying, Zhang, Chao, Huang, Xiaojun, Cao, Li, Liu, Shihua, Zhong, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280832/
https://www.ncbi.nlm.nih.gov/pubmed/35818129
http://dx.doi.org/10.1177/03000605221110489

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280832/
https://www.ncbi.nlm.nih.gov/pubmed/35818129
http://dx.doi.org/10.1177/03000605221110489

Ejemplares similares