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...
Saved in:
Main Authors: | Kantaputra P.N., Klopocki E., Hennig B.P., Praphanphoj V., Le Caignec C., Isidor B., Kwee M.L., Shears D.J., Mundlos S. |
---|---|
Format: | Article |
Language: | English |
Published: |
2014
|
Online Access: | 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 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
Language: | English |
Similar Items
-
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
by: Piranit N. Kantaputra, et al.
Published: (2018) -
Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al
by: Kantaputra PN.
Published: (2014) -
Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.
by: Kantaputra P.N.
Published: (2014) -
IS THE HUMAN GLOBIN α‐CHAIN LOCUS DUPLICATED?
by: Prawase Wasi
Published: (2018) -
A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth
by: Kantaputra P.N., et al.
Published: (2014)