Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene
Caro-Contreras, Alan, Alcántara-Ortigoza, Miguel A., Ahumada-Pérez, Juan F., González-del Angel, AriadnaLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.60676
Date:
December, 2018
File:
PDF, 846 KB
english, 2018