Jane Gillis Elena Burashnikov Charles Antzelevitch Susan Blaser Gil Gross Lesley Turner Riyana Babul-Hirji David Chitayat
10.1002/ajmg.a.34355
Am J Med Genet A
2012 Jan;158A(1):182-7.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/22106044/
Calcium Channels, L-Type / genetics Contracture / genetics Long QT Syndrome / genetics Mutation Stroke / genetics Syndactyly / genetics
Calcium Channels, L-Type / genetics Contracture / genetics Long QT Syndrome / genetics Mutation Stroke / genetics Syndactyly / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Autistic Disorder Chromosome Mapping Chromosomes, Human, Pair 12 Follow-Up Studies Humans Infant, Newborn Magnetic Resonance Imaging Salicylic Acid / therapeutic use CACNA1C protein, human Calcium Channels, L-Type Salicylic Acid Timothy syndrome
PMC3319791
22106044
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome
2012