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

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

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...

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Bibliographic Details
Main Authors: Olatz Villate, Hiart Maortua, María-Isabel Tejada, Isabel Llano-Rivas
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Pediatrics
Subjects:
next-generation sequencing
NSD1
Sotos syndrome
molecular analysis
RNA
splicing mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.827802/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.827802/full

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