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Mutations in WDR4 as a new cause of Galloway-Mowat syndrome
INTRODUCTION: Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we subjected three affected siblings of an India...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6289609/ https://ncbi.nlm.nih.gov/pubmed/30079490 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40489 |
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