Article

A novel MYH9 variant in a Chinese patient with MYH9 related disease

2026-08-05

Abstract excerpt

Abstract To investigate the novel genetic mutations and clinical characteristics in a patient with MYH9 related disease in order to enhance understanding of the disease. Clinical information was obtained, including medical history, pertinent laboratory tests, and family history. Whole exome sequencing (WES) was conducted on the patient and her parents. A 19-year-old female presented with a history of epistaxis and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c20775b2-71d6-541c-905a-915470fc5b55
DOI: 10.1007/s00277-026-07181-z

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel MYH9 variant in a Chinese patient with MYH9 related diseaseDOI 10.1007/s00277-026-07181-zRead

[Gene analysis and clinical features of MYH9-related disease].Semantic proximity Read

[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].Semantic proximity Read

[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].Semantic proximity Read

[Clinical and genetic features of seven children with MYH9-related disease].Semantic proximity Read

[Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome].Semantic proximity Read

Description of a novel mutation leading to MYH9-related disease.Semantic proximity Read

A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan.Semantic proximity Read

A case of MYH9 disorders caused by a novel mutation (p.K74E).Semantic proximity Read

[Clinical features and gene analyses of six patients with MYH9-related disease].Semantic proximity Read

[Nonmuscle myosin heavy chain 9 gene mutations related disease: a family report].Semantic proximity Read

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.Semantic proximity Read

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.Semantic proximity Read