Genetic Confirmation to Solidify Expert Clinical Suspicion
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.
- D Mintoff
- et al.