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Article

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

The Journal of physiology - 15 Mar 2018

Martin-Almedina Silvia, Mansour Sahar, Ostergaard Pia

Abstract excerpt

PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29331020
DOI: 10.1113/JP275718
PMCID: PMC5851881

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?PMID 29331020Read ↗

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