Open AccessPrenatal homozygosity mapping detects a novel mutation in CHST 3 in a fetus with skeletal dysplasia and joint dislocations
Author(s) -
Muys Joke,
Blaumeiser Bettina,
Jacquemyn Yves,
Janssens Katrien
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.800
Subject(s) - disease gene identification , medicine , candidate gene , genetics , mutation , prenatal diagnosis , dysplasia , fetus , gene , exome sequencing , pregnancy , biology , pathology
Key Clinical Message 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.