Article
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
Genetics and molecular research : GMR - 3 Jun 2016
Chen L S, Shi S J, Zou P S, Ma M, Chen X H, Cao D H
Abstract excerpt
Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before birth. As SRPS3 is an autosomal recessive disorder, identification of the gene mutations involved could lead to the development of...
Topics
- Adult
- Comparative Genomic Hybridization
- Cytoplasmic Dyneins
- Female
- Fetus
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Karyotype
- Mutation
- Pedigree