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Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within th...
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| I publikationen: | Genomics |
|---|---|
| Huvudupphovsmän: | , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2012
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4362535/ https://ncbi.nlm.nih.gov/pubmed/22289416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2012.01.005 |
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