Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship

• Main Authors: Yishan Wang (Author), Qizhou Ma (Author), Jing Chen (Author), Shaoxin Li (Author), Feifei Zheng (Author), Lei Shi (Author), Xiaoshun Li (Author), Sinan Li (Author), Guanglei Tong (Author), Hong Li (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable (SWI-SNF) protein family that exhibits c...