Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2...

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Detalles Bibliográficos
Autores principales: Valencia, Maria, Tabet, Lara, Yazbeck, Nadine, Araj, Alia, Ruiz-Perez, Victor L., Charaffedine, Khalil, Fares, Farah, Badra, Rebecca, Farra, Chantal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430639/
https://www.ncbi.nlm.nih.gov/pubmed/26064711
http://dx.doi.org/10.1155/2015/528481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430639/
https://www.ncbi.nlm.nih.gov/pubmed/26064711
http://dx.doi.org/10.1155/2015/528481

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