Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient

BACKGROUND: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant systemic disorder characterized by global developmental delay caused by mutations in the KMT2E gene. The aim of this study was to investigate the role of KMT2E mutations as a cause of ODLURO syndrome in a Chinese boy....

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Zixuan, Wang, Chunli, Chen, Jing, Guo, Hu, Wu, Chunfeng, Zhang, Gang, Ding, Le
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/PMC8901719/
https://www.ncbi.nlm.nih.gov/pubmed/35273928
http://dx.doi.org/10.3389/fped.2022.822096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901719/
https://www.ncbi.nlm.nih.gov/pubmed/35273928
http://dx.doi.org/10.3389/fped.2022.822096

Ejemplares similares