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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Detalles Bibliográficos
Autores principales: Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414221/
https://www.ncbi.nlm.nih.gov/pubmed/32802388
http://dx.doi.org/10.1038/s41439-020-0109-z

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