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Page 1
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. Ye X, et al. Hum Genet. 2006 Mar;119(1-2):199-205. doi: 10.1007/s00439-005-0129-2. Epub 2006 Jan 11. Hum Genet. 2006. PMID: 16404586
In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family. This constitutes the first report of Weyers acrofacial dys …
In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers …
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL, Goodship JA. Ruiz-Perez VL, et al. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876929 Review.
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers …
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial ab …
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. J Med Genet. 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546. J Med Genet. 2024. PMID: 38531627 Free article.
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial …
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, …
Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.
Sivakumaran TA, Lesperance MM. Sivakumaran TA, et al. Int J Mol Med. 2004 Nov;14(5):903-7. Int J Mol Med. 2004. PMID: 15492864
The haplotypes obtained from these polymorphisms will be useful to track the segregation of phenotypes in families with Ellis-van Creveld syndrome, Weyers acrodental dysostosis, LFSNHL and Wolfram syndrome type 1....
The haplotypes obtained from these polymorphisms will be useful to track the segregation of phenotypes in families with Ellis-van Creveld sy …
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Shi L, Luo C, Ahmed MK, Attaie AB, Ye X. Shi L, et al. Mol Genet Genomics. 2016 Apr;291(2):863-72. doi: 10.1007/s00438-015-1151-2. Epub 2015 Nov 30. Mol Genet Genomics. 2016. PMID: 26621368
Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polydactyly, nail dystrophy, dental abnormalities and in a proportion of patients, congenital cardiac malformations. Weyers acrofacial …
Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polyda …
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184
We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not short stature. We …
We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis …
Ellis-van Creveld and Weyers acrofacial dysostosis.
Rihani FB. Rihani FB. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Dec;104(6):731. doi: 10.1016/j.tripleo.2007.08.029. Epub 2007 Oct 17. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007. PMID: 17942330 No abstract available.
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.
Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM. Mostafa MI, et al. Genet Couns. 2005;16(1):75-83. Genet Couns. 2005. PMID: 15844783
We emphasize study of orodental anomalies in future cases for accurate diagnosis of Ellis-van Creveld syndrome and its probable differential diagnosis from Weyers acrodental dysostosis....
We emphasize study of orodental anomalies in future cases for accurate diagnosis of Ellis-van Creveld syndrome and its probable differential …
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A. D'Asdia MC, et al. Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220543
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are allelic disorders caused by mutations in EVC or EVC2 genes. ...Current findings expand the Ellis van Creveld syndrome and Weyers acrofacial dysostosis mutation spectra, and p …
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are allelic disorders caused by mutations in EVC or EVC2 ge …
Brief clinical report: Curry-Hall syndrome.
Shapiro SD, Jorgenson RJ, Salinas CF. Shapiro SD, et al. Am J Med Genet. 1984 Mar;17(3):579-83. doi: 10.1002/ajmg.1320170305. Am J Med Genet. 1984. PMID: 6711608
We propose that the disorder be called the Curry-Hall syndrome....
We propose that the disorder be called the Curry-Hall syndrome....
18 results