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Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling

INTRODUCTION: Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in th...

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Detalhes bibliográficos
Publicado no:Med Arch
Main Authors: Meshram, Girish Gulab, Kaur, Neeraj, Hura, Kanwaljeet Singh
Formato: Artigo
Idioma:Inglês
Publicado em: Academy of Medical Sciences of Bosnia and Herzegovina 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6194947/
https://ncbi.nlm.nih.gov/pubmed/30515000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5455/medarh.2018.72.297-299
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