Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey

Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of diagnostic facial features. With the recognition that patients with SMC1A and SMC3 mutations have milder, atypical features, we survey...

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Detalhes bibliográficos
Main Authors: Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4133091/
https://ncbi.nlm.nih.gov/pubmed/20583156
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33441
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