Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant

Antoine Delinière , Christelle Haddad (1, 2) , Claudia Herrera-Siklody , Alexis Hermida (3) , Etienne Pruvot , Sabrina Bressieux-Degueldre (4) , Gilles Millat , Alexandre Janin (5, 6) , Jean-Sylvain Hermida (3, 7) , Babken Asatryan (8) , Philippe Chevalier (9, 10)

1 Hôpital de la Croix-Rousse [CHU - HCL]
2 CHLS - Centre Hospitalier Lyon Sud [CHU - HCL]
3 CHU Amiens-Picardie
4 CHUV - Centre Hospitalier Universitaire Vaudois [Lausanne]
5 HCL - Hospices Civils de Lyon
6 Université de Lyon
7 MP3CV - Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517
8 Inselspital - Bern University Hospital [Berne]
9 GHE - Groupement Hospitalier Lyon-Est
10 Hôpital Louis Pradel [CHU - HCL]

Mots clés: Timothy syndrome; atrioventricular block; long QT syndrome; phenotype; syndactyly

Domaines: Médecine humaine et pathologie

Antoine Delinière, Christelle Haddad, Claudia Herrera-Siklody, Alexis Hermida, Etienne Pruvot, et al.. Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant. Circulation: Genomic and Precision Medicine, 2023, ⟨10.1161/CIRCGEN.122.004010⟩. ⟨hal-04061427⟩