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Loss-of-function of the Zinc Finger Homeobox 4 () gene underlies a neurodevelopmental disorder.
medRxiv
August 2024
Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we report on 57 individuals, 52 probands and 5 affected family members, with protein truncating variants (n=36), (micro)deletions (n=20) or an inversion (n=1) affecting with variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis.
View Article and Find Full Text PDFZFHX4 truncating variant and orofacial clefting.
Am J Med Genet A
January 2024
Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
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