Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
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DOI: 10.1002/mgg3.379
Abstract: Dyssegmental dysplasia Silverman‐Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four… read more here.
Keywords: dyssegmental dysplasia; dysplasia silverman; dysplasia; silverman handmaker ... See more keywords