Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short QT syndrome 3 is an autosomal dominant disorder caused by a missense mutations of the KCNJ2 gene at codon position 172.
| 1. |
Priori SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 
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| 2. |
Schimpf R et al. (2005) Short QT syndrome.
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| 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.
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| 4. |
OMIM.ORG article Omim 609622
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