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Article

A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.

Thrombosis research - 1 Sept 2009

Kodama Rumi, Taketani Takeshi, Kunishima Shinji, Mishima Seiji, Yoshikawa Yoko, Kanai Rie, Suyama Tamiko, Yoshino Isao, Kunishi Hiroyuki, Shibata Hiroshi, Nagai Atsushi, Yamaguchi Seiji, Masuda Junichi

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Source

Identifiers

PMID: 19250658
DOI: 10.1016/j.thromres.2009.02.001

Genes

MYH9

Variants

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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A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.PMID 19250658Read ↗

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.Semantic proximity Read ↗

Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia.Semantic proximity Read ↗

[MYH9-related macrothrombocytopenia].Semantic proximity Read ↗

A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree.Semantic proximity Read ↗

A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.Semantic proximity Read ↗

A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.Semantic proximity Read ↗

Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss.Semantic proximity Read ↗

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.Semantic proximity Read ↗

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.Semantic proximity Read ↗

Advances in the understanding of MYH9 disorders.Semantic proximity Read ↗

MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisSemantic proximity Read ↗

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