Natalia G. Ponikarovskaya

Diagnostic utility of whole exome sequencing in children with suspected genodermatoses: a single-center retrospective study

Introduction Genodermatoses are a group of monogenic inherited skin disorders characterized by marked genetic heterogeneity. Although the phenotype of many genodermatoses is readily recognizable on clinical examination, it is often insufficient to establish the precise molecular genetic etiology. Currently, the use of...