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Genetic Confirmation to Solidify Expert Clinical Suspicion

D Mintoff et al.
November 22, 2020

A novel c.916C>A EDA gene pathogenic variant in a boy with X-Linked Hypohidrotic Ectodermal Dysplasia

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 genetic counselling and prenatal diagnostics. An educative example of this constellation was recently published in Clinical and Experimental Dermatology.