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A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable. However, an ABCA4 gene mutation was found in the genetic analysis. NDP a...
Autores principales: | Saatci, Ali Osman, Ayhan, Ziya, Yaman, Aylin, Bora, Elcin, Ulgenalp, Ayfer, Kavukcu, Salih |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120373/ https://www.ncbi.nlm.nih.gov/pubmed/30186147 http://dx.doi.org/10.1159/000492320 |
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