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

• मुख्य लेखकों: Shaomin Wu (लेखक), Yingchun Zheng (लेखक), Cailing Xu (लेखक), Jiahui Fu (लेखक), Fu Xiong (लेखक), Fang Yang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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