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XYLT1 Mutations in Desbuquois Dysplasia Type 2
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as resp...
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| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3951945/ https://ncbi.nlm.nih.gov/pubmed/24581741 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.01.020 |
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