Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

• المؤلفون الرئيسيون: Piranit N. Kantaputra, Eva Klopocki, Bianca P. Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L. Kwee, Deborah J. Shears, Stefan Mundlos
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=78549262968&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/50525
• المؤسسة: Chiang Mai University

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...