Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
Flöttmann, Ricarda × Wagner, Johannes Kobus, Karolina Curry, Cynthia J Savarirayan, Ravi Nishimura, Gen Yasui, Natsuo Spranger, Jürgen Van Esch, Hilde Lyons, Michael J DuPont, Barbara R Dwivedi, Alka Klopocki, Eva Horn, Denise Mundlos, Stefan Spielmann, Malte #
BMJ Publishing Group
Journal of Medical Genetics vol:52 issue:7 pages:476-83
Mesomelic dysplasias are a group of skeletal disorders characterised by shortness of the middle limb segments (mesomelia). They are divided into 11 different categories. Among those without known molecular basis is mesomelic dysplasia Savarirayan type, characterised by severe shortness of the middle segment of the lower limb.