X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Tatiana B CherevatovaO A SchaginaM V FreireN A DeminaA Y FilatovaM Y SkoblovA A StepanovaA L ChuhrovaA V PolyakovPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2019)