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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Detalhes bibliográficos
Publicado no:F1000Res
Principais autores: 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: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2019
Assuntos:
Clinical Practice Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826774/
https://ncbi.nlm.nih.gov/pubmed/31723423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.20344.1
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