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

• المؤلفون الرئيسيون: Kantaputra P.N., Klopocki E., Hennig B.P., Praphanphoj V., Le Caignec C., Isidor B., Kwee M.L., Shears D.J., Mundlos S.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-78549262968&partnerID=40&md5=c45e40e9af3ea2c81c1c73c7b924bb82; http://www.ncbi.nlm.nih.gov/pubmed/20648051; http://cmuir.cmu.ac.th/handle/6653943832/1033

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...