Ontology highlight
ABSTRACT:
SUBMITTER: Le Goff C
PROVIDER: S-EPMC3135800 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Le Goff Carine C Mahaut Clémentine C Wang Lauren W LW Allali Slimane S Abhyankar Avinash A Jensen Sacha S Zylberberg Louise L Collod-Beroud Gwenaelle G Bonnet Damien D Alanay Yasemin Y Brady Angela F AF Cordier Marie-Pierre MP Devriendt Koen K Genevieve David D Kiper Pelin Özlem Simsek PÖ Kitoh Hiroshi H Krakow Deborah D Lynch Sally Ann SA Le Merrer Martine M Mégarbane André A Mortier Geert G Odent Sylvie S Polak Michel M Rohrbach Marianne M Sillence David D Stolte-Dijkstra Irene I Superti-Furga Andrea A Rimoin David L DL Topouchian Vicken V Unger Sheila S Zabel Bernhard B Bole-Feysot Christine C Nitschke Patrick P Handford Penny P Casanova Jean-Laurent JL Boileau Catherine C Apte Suneel S SS Munnich Arnold A Cormier-Daire Valérie V
American journal of human genetics 20110616 1
Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified ADAMTSL2 mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall st ...[more]