Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.

ABSTRACT: In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.

SUBMITTER: Muys J 

PROVIDER: S-EPMC5378824 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature