A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis

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. He...

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Detalles Bibliográficos
Autores principales: De Falco, Alessandro, De Brasi, Daniele, Della Monica, Matteo, Cesario, Claudia, Petrocchi, Stefano, Novelli, Antonio, D’Alterio, Giuseppe, Iolascon, Achille, Capasso, Mario, Piscopo, Carmelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859063/
https://www.ncbi.nlm.nih.gov/pubmed/36672860
http://dx.doi.org/10.3390/genes14010119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859063/
https://www.ncbi.nlm.nih.gov/pubmed/36672860
http://dx.doi.org/10.3390/genes14010119

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