KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
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DOI: 10.1002/mgg3.2127
Abstract: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria… read more here.
Keywords: kbg syndrome; findings seven; molecular findings; syndrome clinical ... See more keywords