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

• मुख्य लेखकों: Olatz Villate (लेखक), Hiart Maortua (लेखक), María-Isabel Tejada (लेखक), Isabel Llano-Rivas (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...