Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese

ConclusionOur findings showed that the mutations ofCOL1A1 may play important roles in fetal genetic skeletal dysplasia in Chinese patients. Exome sequencing enhances the accurate diagnosis in utero then provides appropriate genetic counseling.

Source: Molecular Genetics & Genomic Medicine - January 2, 2020 Category: Genetics & Stem Cells Authors: Ruibing Li, Jianan Wang, Longxia Wang, Yanping Lu, Chengbin Wang Tags: ORIGINAL ARTICLE Source Type: research