Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

F1000Research - 1 Jan 2019

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

Abstract excerpt

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 with hypercalcaemia, was initially diagnosed to have primary hyperparathyroidism but repeated parathyroidectomy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Disease
Share to Adaptor Protein Complex 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hong Kong

Share to Hypercalcemia

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 31723423
DOI: 10.12688/f1000research.20344.1
PMCID: PMC6826774

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation.PMID 31723423Read ↗

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.Semantic proximity Read ↗

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].Semantic proximity Read ↗

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.Semantic proximity Read ↗

Rare diseases caused by abnormal calcium sensing and signalling.Semantic proximity Read ↗

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.Semantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia: The Challenge of DiagnosisSemantic proximity Read ↗

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).Semantic proximity Read ↗

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.Semantic proximity Read ↗

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.Semantic proximity Read ↗

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.