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Article

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Journal of clinical research in pediatric endocrinology - 5 Mar 2016

Altıncık Ayça, Schlingmann Karl Peter, Tosun Mahya Sultan

Abstract excerpt

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting this case report, we also aimed to highlight the need for molecular genetic analysis in inbred or familial...

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Source

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Identifiers

PMID: 26759217
DOI: 10.4274/jcrpe.2254
PMCID: PMC4805040

Genes

TRPM6

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.

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