December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
September 2024 in “Journal of Anatomy and Histopathology” In this study, researchers found that topical application of 3-β-methoxy-Δ18-oleanene (miliacin) in mice sped up the recovery of hair follicles damaged by cyclophosphamide, moving them into a new hair growth cycle more quickly compared to controls.
October 2023 in “Pediatric dermatology” This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.