Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout the gene and most cases are due to de n...

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Detalles Bibliográficos
Autores principales: Rossi, Cesare, Ramadan, Sherin, Evangelisti, Cecilia, Ferrari, Simona, Accadia, Maria, Toydemir, Reha M., Panza, Emanuele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947648/
https://www.ncbi.nlm.nih.gov/pubmed/36845402
http://dx.doi.org/10.3389/fgene.2023.1082100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947648/
https://www.ncbi.nlm.nih.gov/pubmed/36845402
http://dx.doi.org/10.3389/fgene.2023.1082100

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