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Title: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
Authors: 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 #
Issue Date: Jul-2015
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:52 issue:7 pages:476-83
Article number: jmedgenet-2015-103108
Abstract: 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.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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