Ontology highlight
ABSTRACT:
SUBMITTER: Gillis J
PROVIDER: S-EPMC3319791 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20111121 1
Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and different mutations within the CACNA1C gene. We report on a newborn who presented with prolonged QT interval and associated polymorphic ventricular tachycardia, dysmorphic facial features, syndactyly of ...[more]