Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4

• Published in: Genes & genomics Vol. 44; no. 9; pp. 1061 - 1070
• Main Authors: Liu, Mingjie, Wan, Linlin, Wang, Chunrong, Yuan, Hongyu, Peng, Yun, Wan, Na, Tang, Zhichao, Yuan, Xinrong, Chen, Daji, Long, Zhe, Shi, Yuting, Qiu, Rong, Tang, Beisha, Jiang, Hong, Chen, Zhao
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01.09.2022; Springer; Springer Nature B.V; 한국유전학회
• Subjects: Analysis; Animal Genetics and Genomics; Biomedical and Life Sciences; Coffin-Siris syndrome; DNA sequencing; Genetic analysis; Genetic disorders; Genomics; Genotypes; Human Genetics; Intellectual disabilities; Life Sciences; Literature reviews; Medical genetics; Microbial Genetics and Genomics; Microcephaly; Nucleotide sequencing; Pathogenicity; Patients; Phenotypes; Plant Genetics and Genomics; Research Article; 생물학; Novel variants; Clinical heterogeneity; Coffin-Siris syndrome; ARID1A; SMARCA4

Background Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including A...