Latest Research
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Research
Adducted thumb syndrome recessive form
- Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
- Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
- Frank-ter Haar syndrome with unusual clinical features.
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