Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

Introduction: O'Donnell-Luria-Rodan syndrome was recently identified as an autosomal dominant systemic disorder caused by variants in KMT2E. It is characterized by global developmental delay, some patients also exhibit autism, seizures, hypotonia, and/or feeding difficulties. Methods: Whole-exo...

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Detalles Bibliográficos
Autores principales: Li, Yang, Fan, Lijuan, Luo, Rong, Yang, Zuozhen, Yuan, Meng, Zhang, Jinxiu, Gan, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935518/
https://www.ncbi.nlm.nih.gov/pubmed/33681112
http://dx.doi.org/10.3389/fped.2021.641841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935518/
https://www.ncbi.nlm.nih.gov/pubmed/33681112
http://dx.doi.org/10.3389/fped.2021.641841

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