A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

ConclusionsBy investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.

Source: Molecular Genetics & Genomic Medicine - December 23, 2019 Category: Genetics & Stem Cells Authors: Shuo Li, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Huijuan Zhu, Hui Pan Tags: ORIGINAL ARTICLE Source Type: research