A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

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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Bibliographic Details
Main Authors: Felix Chi Kin Wong, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Michael Ho Ming Chan, Yuet Ping Yuen
Format: Article
Language:English
Published: F1000 Research Ltd 2019-09-01
Series:F1000Research
Online Access:https://f1000research.com/articles/8-1612/v1

Internet

https://f1000research.com/articles/8-1612/v1

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