{Reference Type}: Case Reports
{Title}: Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
{Author}: Muys J;Blaumeiser B;Jacquemyn Y;Janssens K;
{Journal}: Clin Case Rep
{Volume}: 5
{Issue}: 4
{Year}: Apr 2017
暂无{DOI}: 10.1002/ccr3.800
{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.