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A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome
Kindler syndrome (KS) is a rare subtype of epidermolysis bullosa that is inherited in an autosomal recessive manner with mutations in FERMT1. A number of mutations in FERMT1 have been identified in KS. The current study reported a 33-year-old Chinese man who exhibited a wide variety of clinical feat...
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| Publicado no: | Exp Ther Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7506884/ https://ncbi.nlm.nih.gov/pubmed/32973952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9233 |
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