Disease - Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
- DefinitionAn autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.
- AcronymCPSFS1A
- Alternative names
- Cross references
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Browse 1 entry- Myosin-3 · Gene: MYH3 · Homo sapiens (Human) · 1940 amino acids · Evidence at protein level · Annotation score: 5/5