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Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia
Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Mutations in several genes have been identified recently to be associated with RHD in humans, including BMP4, a member of the transforming growth factor (TGF)-β family of growth factors....
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3616761/ https://ncbi.nlm.nih.gov/pubmed/23262432 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfs539 |
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