Cesare Rossi Sherin Ramadan Cecilia Evangelisti Simona Ferrari Maria Accadia Reha M Toydemir Emanuele Panza
10.3389/fgene.2023.1082100
Front Genet
2023 Feb 9;14:1082100.
charge syndrome chd7 intronic variant minigene splice site mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/36845402/
Case Reports
PMC9947648
36845402
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
2023