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

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...

Full description

Saved in:
Bibliographic Details
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
Format: Journal
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=78549262968&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/50525
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University

Internet

https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=78549262968&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/50525

Similar Items