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

• Egile Nagusiak: Yishan Wang (Egilea), Qizhou Ma (Egilea), Jing Chen (Egilea), Shaoxin Li (Egilea), Feifei Zheng (Egilea), Lei Shi (Egilea), Xiaoshun Li (Egilea), Sinan Li (Egilea), Guanglei Tong (Egilea), Hong Li (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2024-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...