Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 41; no. 5; p. 533
• Main Authors: Li, Yan, Qin, Litao, Yang, Ke, Chen, Xin, Zhu, Hongjie, Mi, Luya, Wang, Yaoping, Ma, Xinrui, Liao, Shixiu
• Format: Journal Article
• Language: Chinese
• Published: China 10.05.2024
• Subjects: Child; Child, Preschool; China; East Asian People - genetics; Exome Sequencing; Female; Genetic Testing - methods; Guanine Nucleotide Exchange Factors - genetics; Histone Acetyltransferases; Humans; Infant; Intellectual Disability - genetics; Male; Mental Retardation, X-Linked - genetics; Methyl-CpG-Binding Protein 2 - genetics; Mutation; Pedigree; TATA-Binding Protein Associated Factors - genetics; Transcription Factor TFIID - genetics; X Chromosome Inactivation; China

To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID). Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were sel...