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Article

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

Clinical genetics - 1 Mar 2014

Beneteau C, Thierry G, Blesson S, Le Vaillant C, Picard V, Béné M C, Eveillard M, Le Caignec C

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Topics

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Share to Anemia, Hemolytic, Congenital
Share to Chromosome Segregation
Share to Heterozygote
Share to Hydrops Fetalis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23581886
DOI: 10.1111/cge.12147

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.PMID 23581886Read ↗

Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach.Semantic proximity Read ↗

Polycythemia revealing PIEZO1 hereditary xerocytosis.Semantic proximity Read ↗

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalisSemantic proximity Read ↗

Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.Semantic proximity Read ↗

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosisSemantic proximity Read ↗

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsSemantic proximity Read ↗

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Semantic proximity Read ↗

Perinatal presentations of nonimmune hydrops fetalis due to biallelic pathogenic variants in PIEZO1: underdiagnosed?Semantic proximity Read ↗

PIEZO1 variant implications for biological understanding and human healthSemantic proximity Read ↗

Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis.Semantic proximity Read ↗

Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.Semantic proximity Read ↗

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.Semantic proximity Read ↗

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