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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Bibliographic Details
Main Authors: Lebre, Anne-Sophie, Morinière, Vincent, Dunand, Olivier, Bensman, Albert, Morichon-Delvallez, Nicole, Antignac, Corinne
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2009
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Article
Online Access: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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