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Article

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Blood - 15 Jul 2003

Deutsch Samuel, Rideau Alexandra, Bochaton-Piallat Marie-Luce, Merla Giuseppe, Geinoz Antoine, Gabbiani Giulio, Schwede Torsten, Matthes Thomas, Antonarakis Stylianos E, Beris Photis

Abstract excerpt

May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like sym...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12649151
DOI: 10.1182/blood-2002-09-2783

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12649151-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.PMID 12649151Read ↗

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Semantic proximity Read ↗

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.Semantic proximity Read ↗

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.Semantic proximity Read ↗

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

Clinical manifestation and molecular genetic characterization of MYH9 disorders.Semantic proximity Read ↗

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

MYH9-Related Platelet DisordersSemantic proximity Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.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 ↗

[May-Hegglin anomaly--from genome research to clinical laboratory].Semantic proximity Read ↗

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

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

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