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Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal....

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Detalhes bibliográficos
Main Authors: Rudnik-Schöneborn, S., Zerres, K., Graul-Neumann, L., Wiegand, S., Mellerowicz, H., Hehr, U.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214960/
https://ncbi.nlm.nih.gov/pubmed/22190900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000331338
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