Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
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DOI: 10.3390/ijms23115912
Abstract: KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using… read more here.
Keywords: kbg syndrome; molecular spectrum; expanding molecular; spectrum ankrd11 ... See more keywords