Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

Autor: Colson, Cindy, Mittre, Hervé, Busson, Adeline, Leenhardt, Antoine, Denjoy, Isabelle, Fressard, Véronique, Troadec, Yann
Zdroj: In European Journal of Medical Genetics July 2019 62(7)
Databáze: ScienceDirect