A First-Case Report of Pycnodysostosis in an Omani Boy
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DOI: 10.1055/s-0040-1714364
Abstract: Here we report on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the… read more here.
Keywords: omani boy; pycnodysostosis; case; first case ... See more keywords