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OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
BACKGROUND: Oral-facial-digital syndrome type 1 (OFD1) is a rare ciliopathy mainly with an X-linked dominant pattern of inheritance, which is caused by mutations in the OFD1 gene. The OFD1 protein is located within the centrosomes and basal bodies of the primary cilia. It is reported that approximat...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000948/ https://www.ncbi.nlm.nih.gov/pubmed/32047782 http://dx.doi.org/10.12998/wjcc.v8.i2.331 |