A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation

Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the CASR, GNA11 and AP2S1 genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mutations in AP2S1. The proband, a 51-year-old woman...

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Detalles Bibliográficos
Autores principales: Wong, Felix Chi Kin, Wong, Wai Sheung, Kwok, Jeffrey Sung Shing, Tsui, Teresa Kam Chi, Lau, Kam Piu, Chan, Michael Ho Ming, Yuen, Yuet Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Clinical Practice Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826774/
https://www.ncbi.nlm.nih.gov/pubmed/31723423
http://dx.doi.org/10.12688/f1000research.20344.1

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