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Incontinentia pigmenti in a child with suspected retinoblastoma
BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction ret...
Autores principales: | Weiss, Stephanie J., Srinivasan, Archana, Klufas, Michael A., Shields, Carol L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603187/ https://www.ncbi.nlm.nih.gov/pubmed/28932485 http://dx.doi.org/10.1186/s40942-017-0088-5 |
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