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Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis
We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found in patients from the European origin. The proband's mother was heterozygous...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2009
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986554/ https://ncbi.nlm.nih.gov/pubmed/19259134 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.13 |
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