TY  - GEN
AU  - Colson,Cindy
AU  - Mittre,Hervé
AU  - Busson,Adeline
AU  - Leenhardt,Antoine
AU  - Denjoy,Isabelle
AU  - Fressard,Véronique
AU  - Troadec,Yann
TI  - Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C
SN  - 1878-0849
PY  - 2019///0904
KW  - Adult
KW  - Autistic Disorder
KW  - genetics
KW  - Calcium Channels, L-Type
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Long QT Syndrome
KW  - Mutation
KW  - Phenotype
KW  - Plakophilins
KW  - Syndactyly
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1016/j.ejmg.2019.04.005
ER  -