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

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Autores:

Chuhrova A.L., Demina N.A., Filatova A.Y., Maria Valeria Freire, Milovidova T.B., Polyakov A.V., Schagina O.A., Skoblov M.Y., Stepanova A.A.

Fuentes:

scopus