Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.63353 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Am J Hum Genet
June 2025
Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. Electronic address:
8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss. We report on 63 individuals-57 probands and 6 affected family members-with protein-truncating variants (n = 41), (micro)deletions (n = 21), or an inversion (n = 1) affecting ZFHX4.
View Article and Find Full Text PDFLoss-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.