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Genetic Confirmation to Solidify Expert Clinical Suspicion
Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as […]
A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are […]
A Novel PORCN Mutation in a Severe Case of Focal Dermal Hypoplasia
Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital […]