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

BACKGROUND: Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been fo...

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Hlavní autoři: Ali, Bassam R, Akawi, Nadia A, Chedid, Faris, Bakir, Mahmood, Ur Rehman, Moghis, Rahmani, Aiman, Al-Gazali, Lihadh
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2845574/
https://ncbi.nlm.nih.gov/pubmed/20184732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-33
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