%0 Case Reports
%T Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
%A Muys J
%A Blaumeiser B
%A Jacquemyn Y
%A Janssens K
%J Clin Case Rep
%V 5
%N 4
%D Apr 2017
%M 28396765
暂无%R 10.1002/ccr3.800
%X 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.