Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report

Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear. Mutations in the...

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Detalles Bibliográficos
Autores principales: Park, Kyung-Hee, Lee, Seung-Tae, Ki, Chang-Seok, Byun, Shin-Yun
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995242/
https://www.ncbi.nlm.nih.gov/pubmed/21165303
http://dx.doi.org/10.3346/jkms.2010.25.12.1821

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