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

BACKGROUND: Sotos 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 s...

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Detalles Bibliográficos
Autores principales: Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848324/
https://www.ncbi.nlm.nih.gov/pubmed/35186810
http://dx.doi.org/10.3389/fped.2022.827802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848324/
https://www.ncbi.nlm.nih.gov/pubmed/35186810
http://dx.doi.org/10.3389/fped.2022.827802

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