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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Bibliographic Details
Main Authors: Park, Kyung-Hee, Lee, Seung-Tae, Ki, Chang-Seok, Byun, Shin-Yun
Format: Artigo
Language:Inglês
Published: The Korean Academy of Medical Sciences 2010
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2995242/
https://ncbi.nlm.nih.gov/pubmed/21165303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.12.1821
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