SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
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DOI: 10.3389/fneur.2020.00631
Abstract: Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due… read more here.
Keywords: setd5 gene; kbg syndrome; gene; gene haploinsufficiency ... See more keywords