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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing
We report a Japanese girl with mild xeroderma pigmentosum group D neurological disease. She had short stature, cataracts, intellectual disability, and mild skin symptoms. However, she was not clinically diagnosed. Using whole-exome sequencing, we identified compound heterozygous pathogenic variants...
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| Pubblicato in: | Hum Genome Var |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7414221/ https://ncbi.nlm.nih.gov/pubmed/32802388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0109-z |
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