title: 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.
authors.affiliation: University Hospital Antwerp Edegem Belgium.
authors.forename: Joke
authors.identifier: 0000-0001-6414-7464
authors.initials: J
authors.lastname: Muys
authors.affiliation: University Hospital Antwerp Edegem Belgium.
authors.forename: Bettina
authors.initials: B
authors.lastname: Blaumeiser
authors.affiliation: University Hospital Antwerp Edegem Belgium.
authors.forename: Yves
authors.initials: Y
authors.lastname: Jacquemyn
authors.affiliation: University of Antwerp Edegem Belgium.
authors.forename: Katrien
authors.initials: K
authors.lastname: Janssens
keywords: CHST3; homozygosity mapping; prenatal; single nucleotide polymorphism array; skeletal dysplasia; spondyloephiphyseal dysplasia