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Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome
Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by developmental defects of dorsal limb structures, the kidney, and the eye, that manifest as dysplastic nails, hypoplastic or absent patella, elbow dysplasia, iliac horns, glomerulopathy, and adult-onset glaucoma, respec...
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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6409120/ https://ncbi.nlm.nih.gov/pubmed/30881852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01131 |
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