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Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in...
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| Pubblicato in: | Mol Genet Metab Rep |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6881597/ https://ncbi.nlm.nih.gov/pubmed/31799120 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100534 |
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