Condition: Noonan Syndrome 2
rs1034395178 in
LZTR1 gene and
Noonan Syndrome 2
PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
PMID 30481304 2019 Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.