Rauch-Steindl syndromeResearch
A novel NSD2 missense variant has been identified and functionally analyzed in a patient with Rauch-Steindl Syndrome. This discovery adds to the understanding of the genetic underpinnings of this rare condition.
identification and functional analysis of a novel nsd2 missense variant in a patient with rauch steindl syndrome
Original title: “Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.”