Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
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DOI: 10.1038/jhg.2016.143
Abstract: Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of… read more here.
Keywords: two turkish; novel recurrent; turkish families; desbuquois dysplasia ... See more keywords