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An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns
Orofaciodigital syndrome 1 (OFD-1) is a rare, X-linked, dominantly inherited disorder caused by an OFD1 mutation that can cause polycystic kidneys. A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polycystic kidney...
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| Foilsithe in: | Intern Med |
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| Main Authors: | , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
The Japanese Society of Internal Medicine
2019
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6859397/ https://ncbi.nlm.nih.gov/pubmed/31243241 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2571-18 |
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