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. [electronic resource]
Producer: 20030708Description: 203-15 p. digitalISSN:- 0025-7974
- Adolescent
- Adult
- Aged
- Cataract -- complications
- Child
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Genotype
- Hearing Loss, Sensorineural -- complications
- Hematuria -- complications
- Humans
- Immunohistochemistry
- Male
- Middle Aged
- Molecular Motor Proteins
- Myosin Heavy Chains -- genetics
- Nephritis -- complications
- Neutrophils -- metabolism
- Nonmuscle Myosin Type IIA -- metabolism
- Pedigree
- Phenotype
- Point Mutation -- genetics
- Proteinuria -- complications
- Purpura, Thrombocytopenic, Idiopathic -- classification
- Reverse Transcriptase Polymerase Chain Reaction
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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