Integrated Clinical-Genetic-Pathological Analysis Expands the Phenotypic and Molecular Spectrum of PPNAD Across Carney Complex and Isolated Forms.

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism

This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype–phenotype correlations

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.

Findings support tailored multigene panel testing as an effective diagnostic strategy in patients with marfanoid habitus.

Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.

By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.