Acrofacial Dysostosis Weyers Type Latest Advances
Find the Latest Research About Acrofacial Dysostosis Weyers Type
Last Updated: 04/28/2026
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Found 29 publications
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Journal: Journal of medical genetics
Published: July 28, 2023
EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
Journal: Frontiers in cell and developmental biology
Published: March 21, 2023
Microdeletion of 4p16.2 in Children: A Case Report and Literature Review.
Journal: Case reports in genetics
Published: January 23, 2022
Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.
Journal: Congenital anomalies
Published: April 08, 2018
Analysis of causes and whole microbial structure in a case of rampant caries
Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University
Published: October 26, 2016
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Journal: Molecular genetics and genomics : MGG
Published: August 20, 2015
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
Journal: European journal of medical genetics
Published: September 06, 2012
Ciliary disorder of the skeleton.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 14, 2012
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis.
Journal: Journal of clinical imaging science
Published: February 23, 2012
Last Updated: 04/28/2026