Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

BACKGROUND: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without...

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Detalles Bibliográficos
Autores principales: Ulucan, Hakan, Gül, Davut, Sapp, Julie C, Cockerham, John, Johnston, Jennifer J, Biesecker, Leslie G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584628/
https://www.ncbi.nlm.nih.gov/pubmed/18947413
http://dx.doi.org/10.1186/1471-2350-9-92

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