Associated Papers
Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.
Liu Z et al.
Cardiology in the Young, 2026
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Knauer C et al.
Molecular Therapy. Nucleic Acids, 2024
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM et al.
Bmc Medical Genomics, 2022
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M et al.
Human Molecular Genetics, 2019
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.
Liang WS et al.
Genome Research, 2017
28373299 (PubMed )
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