Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 182-187

  Gillis, Jane ^a   Burashnikov, Elena ^b   Antzelevitch, Charles ^b   Blaser, Susan ^c   Gross, Gil ^c   Turner, Lesley ^d   Babul Hirji, Riyana ^c   Chitayat, David ^c  

^a DALHOUSIE UNIVERSITY   (Canada)

^b MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Arrhythmia; Autosomal dominant; Long QT; Seizure; Syndactyly; Timothy syndrome

Indexed keywords

ALANINE; GLYCINE; PHENOBARBITAL;

AMINO ACID SUBSTITUTION; APGAR SCORE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CACNA1C GENE; CASE REPORT; CEREBRAL BLINDNESS; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DEFIBRILLATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FACE DYSMORPHIA; FOLLOW UP; GENE MUTATION; HIP DISLOCATION; HIP DYSPLASIA; HUMAN; INTRACTABLE EPILEPSY; JOINT CONTRACTURE; LONG QT SYNDROME; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; POLYMORPHIC VENTRICULAR TACHYCARDIA; PRIORITY JOURNAL; QT INTERVAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; STROKE; SYNDACTYLY; TIMOTHY SYNDROME;

CALCIUM CHANNELS, L-TYPE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CONTRACTURE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LONG QT SYNDROME; MAGNETIC RESONANCE IMAGING; MUTATION; SALICYLIC ACID; STROKE; SYNDACTYLY;

PHLEUM PRATENSE;

EID: 84355162789     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34355     Document Type: Article

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