Article
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Genes - 1 Jan 2023
De Falco Alessandro, De Brasi Daniele, Della Monica Matteo, Cesario Claudia, Petrocchi Stefano, Novelli Antonio, D'Alterio Giuseppe, Iolascon Achille, Capasso Mario, Piscopo Carmelo
Abstract excerpt
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many organs. The diagnosis of this condition is primarily clinical and it can be confirmed by molecular analysis of the genes known to cause this disease, although about 30% of CdLS patients are without a genetic diagnosis. Here we report clinical and genetic findings of a patient with CdLS type 4, a syndrome of which the clinical features...
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