ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
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DOI: 10.1093/hmg/ddac289
Abstract: Abstract Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the… read more here.
Keywords: pathogenic variants; kbg syndrome; dnam profiles; signature ... See more keywords
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