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Article

Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia.

Vojnosanitetski pregled - 1 Apr 2014

Kuzmanović Milos, Kunishima Shinji, Putnik Jovana, Stajić Natasa, Paripović Aleksandra, Bogdanović Radovan

Abstract excerpt

INTRODUCTION: The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the...

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Source

Identifiers

PMID: 24783421
DOI: 10.2298/vsp121127001k

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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