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The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in VPS13B, also known as COH1. Over 100 pathogenic variants in VSP13B, primarily truncations, and copy number variants, have been found in patients with CS. Here, we present a...
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| Publicado en: | Am J Med Genet A |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6240332/ https://ncbi.nlm.nih.gov/pubmed/28631888 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38328 |
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