Articles with "variation ankrd11" as a keyword



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Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

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Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12030407

Abstract: KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for… read more here.

Keywords: kbg syndrome; variation ankrd11; ankrd11 gene; report ... See more keywords