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Article

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

European journal of human genetics : EJHG - 1 Jan 2006

Jalkanen Reetta, Pronicka Ewa, Tyynismaa Henna, Hanauer Andre, Walder Roxanne, Alitalo Tiina

Abstract excerpt

Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disease, characterised by neurological symptoms, such as tetany, muscle spasms and seizures, due to hypocalcemia. It has been suggested that HSH is genetically heterogeneous, but only one causative gene, TRPM6, on chromosome 9 has so far been isolated. We have now studied the genetic background of HSH in four Polish patients belonging to three...

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Share to Chromosomes, Human, Pair 9
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypocalcemia

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Share to Protein Serine-Threonine Kinases

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Source

Identifiers

PMID: 16267500
DOI: 10.1038/sj.ejhg.5201515

Genes

VEGFD
TRPM6
TRPM7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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