The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence

BACKGROUND: Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194). Here, we report the first case of SEI caused by a KRT2 mosaic mutation. METHO...

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Detalles Bibliográficos
Autores principales: Li, Yue, Cheng, Ruhong, Liang, Jianying, Yao, Zhirong, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667337/
https://www.ncbi.nlm.nih.gov/pubmed/32881395
http://dx.doi.org/10.1002/mgg3.1457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667337/
https://www.ncbi.nlm.nih.gov/pubmed/32881395
http://dx.doi.org/10.1002/mgg3.1457

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