Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates-Reference-Cited by-同舟云学术

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

Published:2010-02-25 Issue:1 Volume:11 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ali Bassam R,Akawi Nadia A,Chedid Faris,Bakir Mahmood,Ur Rehman Moghis,Rahmani Aiman,Al-Gazali Lihadh

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-11-33.pdf

Reference14 articles.

1. Ellis RWB, van Creveld S: A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital morbus cordis: report of three cases. Arch Dis Child. 1940, 5: 65-10.1136/adc.15.82.65.

2. McKusick VA, Egeland JA, Eldridge R, Krusen DE: Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp. 1964, 115: 306-336.

3. 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: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000, 24: 283-286. 10.1038/73508.

4. Al-Gazali L, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzzaq YM, Dawodu AK: Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Res Part A Clin Mol Teratol. 2003, 67: 125-32. 10.1002/bdra.10009.

5. Baujat G, Le Merrer M: Ellis-Van Creveld syndrome. Orphanet J Rare Dis. 2007, 2: 27-10.1186/1750-1172-2-27.

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1. 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

2. Microdeletion of 4p16.2 in Children: A Case Report and Literature Review;Case Reports in Genetics;2022-04-09

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;Atlas of Genetic Diagnosis and Counseling;2017

5. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium;HUM MOL GENET;2015