[Clinical and genetic characteristics and genotype-phenotype correlations of pheochromocytoma and paraganglioma in children and adolescents].

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.

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

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients

“hemiconvulsion-hemiplegia-epilepsy syndrome” is identified as a distinct feature and potential prognostic indicator for middle domain variants in DNM1L variants, which are predominantly missense, with the middle domain as a hotspot.

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

SCN1A-confirmed DS is associated with substantial seizure burden and neurodevelopmental morbidity, and delayed molecular diagnosis may lead to inappropriate treatment exposure and seizure worsening.

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

[Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene].