Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
Author:
Publisher
Elsevier BV
Subject
Surgery
Reference22 articles.
1. Ciliopathies: an expanding disease spectrum;Waters;Pediatr. Nephrol.,2011
2. The pathogenesis of the clinical features of oral-facial-digital syndrome type I;Al-Kattan;Saudi Med. J.,2015
3. The pathogenesis of ulnar polydactyly in humans;Al-Qattan;J. Hand Surg. Eur. Vol.,2013
4. Mutations in a new gene in/Ellis-van-Creveld syndrome and Weyers acrodental dysostosis;Ruiz-Perez;Nat. Genet.,2000
5. A new gene EVC2, is mutated in Ellis-van Creveled syndrome;Goldzicka;Mol. Genet. Metab.,2002
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1. A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome;Molecular Genetics & Genomic Medicine;2023-05-09
2. Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions;Genetics in Medicine Open;2023
3. Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia;Cureus;2021-09-06
4. Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East;Acta medica Lituanica;2021-08-20
5. An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation;American Journal of Medical Genetics Part A;2021-05-26
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