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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2010
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| Θέματα: | |
| Διαθέσιμο Online: | 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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