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Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity
BACKGROUND: Uniparental disomy (UPD) leading to autosomal recessive (AR) diseases is rare. We found an unusual homozygous state in two nonconsanguineous families, and only one parent in each family was a heterozygote. METHODS: Two patients with homozygosity for pathogenic variants were revealed by w...
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| Gepubliceerd in: | Mol Genet Genomic Med |
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| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6785455/ https://ncbi.nlm.nih.gov/pubmed/31454184 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.945 |
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