ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
Xia D, Deng S, Gao C, Li X, Zhang L, Xiao X, Peng X, Zhang J, He Z, Meng Z, Liu Z, Ouyang N, Liang L.
Xia D, et al.
Am J Med Genet A. 2023 May;191(5):1240-1249. doi: 10.1002/ajmg.a.63139. Epub 2023 Feb 9.
Am J Med Genet A. 2023.
PMID: 36756859
Review.
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. ...In this study, we report a 5-year-7-month-old Chinese female who underwent whole-exome sequencing to discover that she ha …
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) …