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Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. The increased understanding of the genetic basis of...

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Detalhes bibliográficos
Main Authors: Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3880228/
https://ncbi.nlm.nih.gov/pubmed/24038889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22430
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