A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum

PACS1 neurodevelopmental disorder (PACS1-NDD) is a category of rare disorder characterized by intellectual disability, speech delay, dysmorphic facial features, and developmental delay. Other various physical abnormalities of PACS1-NDD might involve all organs and systems. Notably, there were only t...

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Detalles Bibliográficos
Autores principales: Liu, Yuan, Ding, Hongke, Yan, Tizhen, Liu, Ling, Yu, Lihua, Huang, Yanlin, Li, Fake, Zeng, Yukun, Huang, Weiwei, Zhang, Yan, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346485/
https://www.ncbi.nlm.nih.gov/pubmed/34373684
http://dx.doi.org/10.3389/fgene.2021.690216

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346485/
https://www.ncbi.nlm.nih.gov/pubmed/34373684
http://dx.doi.org/10.3389/fgene.2021.690216

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