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

Mingjie LiuLinlin WanChunrong WangHongyu YuanYun PengNa WanZhichao TangXinrong YuanDaji ChenZhe LongYuting ShiRong QiuBeisha TangHong JiangZhao Chen

Published in: Genes & genomics (2022)

We reported the first Chinese CSS2 and CSS4 patients with novel variants of ARID1A and SMARCA4. Our study expanded the genetic and phenotypic spectrum of CSS, providing a comprehensive overview of genotype-phenotype correlations of CSS.

Keyphrases

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dna methylation