LAUSR

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

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1 Published in 2020 at "Frontiers in Neurology"

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