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Two Novel Rad21 Mutations in Patients with Mild Cornelia De Lange Syndrome-Like Presentation and Report of the First Familial Case

Agata Minor,Marwan Shinawi,Jacob S. Hogue,Marisa Vineyard,Damara R. Hamlin,Christopher Tan,Kirsten Donato,Latrice Wysinger,Shaun Botes,Soma Das,Daniela del Gaudio

GENE（2014）

Cited 35|Views21
Key words
Cornelia de Lange syndrome,RAD21,Exonic copy number variants,Frameshift mutation,Germline mutation
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