Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing 481 and...
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Main Authors: | Piranit N. Kantaputra, Eva Klopocki, Bianca P. Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L. Kwee, Deborah J. Shears, Stefan Mundlos |
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Format: | Journal |
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2018
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Subjects: | |
Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=78549262968&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/50525 |
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Institution: | Chiang Mai University |
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