Sezin Canbek

Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding.

17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia characterized by impaired cortisol and sex steroid synthesis with accumulation of mineralocorticoid precursors. Although hypertension, hypokalemia, and sexual infantilism represent the classical phenotype, atypical presentat...

Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification

Clinical and genetic findings in Parkinson’s disease in a Turkish cohort: a retrospective exome sequencing study

The characterization of prominent VUS in OMIM-associated genes and a novel LRRK2 structural variant undetected by routine MLPA highlights the evolving complexity of PD genetics and the critical need for integrating comprehensive, read-depth-based CNV analysis into standard pipelines.

Chromosomal Microarray Analysis in Pediatric Patients with Neurodevelopmental Disorders and Congenital Anomalies: A Two-Center Experience

The findings highlight the importance of detailed phenotyping, breakpoint analysis, and segregation studies in interpreting CNVs, particularly VUS and rare intragenic disruptions.