Ontology highlight
ABSTRACT:
SUBMITTER: Tham E
PROVIDER: S-EPMC4717212 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Tham Emma E Eklund Erik A EA Hammarsjö Anna A Bengtson Per P Geiberger Stefan S Lagerstedt-Robinson Kristina K Malmgren Helena H Nilsson Daniel D Grigelionis Gintautas G Conner Peter P Lindgren Peter P Lindstrand Anna A Wedell Anna A Albåge Margareta M Zielinska Katarzyna K Nordgren Ann A Papadogiannakis Nikos N Nishimura Gen G Grigelioniene Giedre G
European journal of human genetics : EJHG 20150513 2
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, com ...[more]