Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

BACKGROUND: PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22...

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Detalles Bibliográficos
Autores principales: Chen, Liang, Yao, Zhi-ye, Wu, Xiangtao, He, Shao-ru, Liu, Yu-mei, Wang, Xue-yan, Cao, De-zhi, Yang, Xing-kun, Zhao, Jian-bo, Ren, Zi, Li, Hong, Pei, Zheng, Ding, Hong-ke, Feng, Zhi-chun
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/PMC9445366/
https://www.ncbi.nlm.nih.gov/pubmed/36081626
http://dx.doi.org/10.3389/fped.2022.888001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445366/
https://www.ncbi.nlm.nih.gov/pubmed/36081626
http://dx.doi.org/10.3389/fped.2022.888001

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