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
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Genetic Variants in LZTR1, MAP2K1 and RAF1: Insights into the Role of RAS-MAPK Pathway in Primary Lymphedema.
Belanova I et al.
Lymphology, 2025
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
Wang S et al.
Esc Heart Failure, 2024
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
Abe T et al.
Jci Insight, 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
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM et al.
Bmc Medical Genomics, 2022
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X et al.
Bmc Endocrine Disorders, 2021
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants.
Perin F et al.
Revista Espanola De Cardiologia (english Ed.), 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT et al.
Clinical Genetics, 2019
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