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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disea...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | EMBO Mol Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5167135/ https://ncbi.nlm.nih.gov/pubmed/27861128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201606623 |
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