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A novel ABCC6 variant causative of pseudoxanthoma elasticum
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel homozygous c.4041G > A variant located in the...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6586818/ https://ncbi.nlm.nih.gov/pubmed/31240106 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0062-x |
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