RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

• Main Authors: Olatz Villate (Author), Hiart Maortua (Author), María-Isabel Tejada (Author), Isabel Llano-Rivas (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

BackgroundSotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene located on chromosome 5q35 is the major cause of the syn...