Short QT syndrome 2 is an autosomal dominant disorder caused by a missense mutations of the KCNQ1 gene at codon position 307.
1. |
Bellocq C et al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. |
2. |
Schimpf R et al. (2005) Short QT syndrome. |
3. |
Moreno C et al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. |
4. |
OMIM.ORG article Omim 609621 |