A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family

OBJECTIVE: To analyze genetic mutations in a Chinese pedigree affected with Alpha-thalassemia X-linked intellectual disability syndrome, providing a precise diagnosis and genetic counseling. METHODS: Clinical data was collected. A novel alternative splicing variant detected by whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Wu, Shaomin, Zheng, Yingchun, Xu, Cailing, Fu, Jiahui, Xiong, Fu, Yang, Fang
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/PMC8811470/
https://www.ncbi.nlm.nih.gov/pubmed/35127601
http://dx.doi.org/10.3389/fped.2021.811812

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811470/
https://www.ncbi.nlm.nih.gov/pubmed/35127601
http://dx.doi.org/10.3389/fped.2021.811812

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