Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability

BACKGROUND AND OBJECTIVES: Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, behavioral abnormalities, and facial dysmorphism. It is caused by a heterozygous pathogenic variant in the thyroid hormone receptor in...

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Detalles Bibliográficos
Autores principales: Yi, Sheng, Chen, Fei, Qin, Zailong, Yi, Shang, Huang, Limei, Huang, Leini, Feng, Ying, Wei, Hao, Yang, Qi, Zhang, Qinle, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585485/
https://www.ncbi.nlm.nih.gov/pubmed/36275919
http://dx.doi.org/10.1212/NXG.0000000000200025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585485/
https://www.ncbi.nlm.nih.gov/pubmed/36275919
http://dx.doi.org/10.1212/NXG.0000000000200025

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