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Article

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.

Pediatric blood & cancer - 1 Jul 2018

Park Joonhong, Jang Woori, Han Eunhee, Chae Hyojin, Yoo Jaeeun, Kim Yonggoo, Kim Yoo-Jin, Kim Myungshin

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Share to Anemia, Hemolytic, Congenital
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Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrops Fetalis

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Source

Identifiers

PMID: 29603612
DOI: 10.1002/pbc.27053

Genes

PIEZO1

Provenance

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

Related research

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Research trail→

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Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.PMID 29603612Read ↗

Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panelSemantic proximity Read ↗

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

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosisSemantic proximity Read ↗

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

Hereditary dehydrated stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panelSemantic proximity Read ↗

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

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.Semantic proximity Read ↗

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.Semantic proximity Read ↗

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.Semantic proximity Read ↗

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.Semantic proximity Read ↗

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)Semantic proximity Read ↗

Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).Semantic proximity Read ↗

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