Disease: Macrothrombocytopenia progressive deafness
- A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect
- A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature
- An unusual cause of renal failure; Epstein syndrome
- Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature
- Building platelet phenotypes: Diaphanous-related formin 1 (DIAPH1)-related disorder
- Cisplatin-Mediated Upregulation of APE2 Binding to MYH9 Provokes Mitochondrial Fragmentation and Acute Kidney Injury
- Fechtner syndrome. A rare differential Alport syndrome diagnosis
- Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
- Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation
- Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene
- Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9
- Macrothrombocytopenia and progressive deafness: a new genetic syndrome
- Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis
- MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene
- MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype
- MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
- MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy
- Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
- Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease
- Renal manifestations of patients with MYH9-related disorders