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: Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002849/
https://ncbi.nlm.nih.gov/pubmed/20648051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.116
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