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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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Main Authors: Lebre, Anne-Sophie, Morinière, Vincent, Dunand, Olivier, Bensman, Albert, Morichon-Delvallez, Nicole, Antignac, Corinne
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2009
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Acceso en liña: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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