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.
13 citations
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March 2017 in “Genomics” This study reported that pathways related to apoptosis, cell proliferation, and WNT signaling might be key drivers of hair loss in androgenetic alopecia, guiding potential targets for therapy development.
147 citations
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January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
25 citations
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March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.