Articles with "dysplasia novel" as a keyword



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Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2004

Abstract: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long… read more here.

Keywords: dysplasia novel; novel genetic; genetic variant; dysplasia ... See more keywords