Mild Cornelia De Lange Syndrome
Sept. 11, 2024
Representative facies in mild NIPBL and SMC1A-mutated CdLS ... Overview of the phenotype and molecular findings of two patients ... A novel RAD21 mutation in a boy with mild Cornelia de Lange ... Mild Cornelia De Lange Syndrome
![PDF] Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case ...](https://d3i71xaburhd42.cloudfront.net/abaf947324ff8da41163636eda8319e9ac599c41/2-Figure1-1.png){kind=link}
![PDF] Evaluating Face2Gene as a Tool to Identify Cornelia de Lange ...](https://d3i71xaburhd42.cloudfront.net/394e93e699f3c75289629897240d5b48e50c50c3/9-Figure3-1.png){kind=link}
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