American Journal of Medical Genetics Part A
The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1 ‐Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature
ABSTRACT Pathogenic variants in LZTR1 are an established cause of Noonan syndrome (NS) and uniquely exhibit both autosomal dominant (AD) and autosomal recessive (AR) inheritance. However, the phenotypic spectrum and genotype–phenotype correlations remain incompletely defined. We conducted a multi‐center retrospective chart review of patients diagnosed with LZTR1 ‐NS evaluated at three tertiary care centers. Clinical, molecular, and imaging data were systematically collected. A comprehensive literature review (2015– …