Articles with "silverman handmaker" as a keyword



Dyssegmental dysplasia, Silvermanā€Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy

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Published in 2018 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.379

Abstract: Dyssegmental dysplasia Silvermanā€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