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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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Detalles Bibliográficos
Autores principales: Meshram, Girish Gulab, Kaur, Neeraj, Hura, Kanwaljeet Singh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences of Bosnia and Herzegovina 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194947/
https://www.ncbi.nlm.nih.gov/pubmed/30515000
http://dx.doi.org/10.5455/medarh.2018.72.297-299