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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

BACKGROUND: Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A...

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Detalles Bibliográficos
Autores principales:	Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2013
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756527/ https://www.ncbi.nlm.nih.gov/pubmed/23812910 http://dx.doi.org/10.1136/jmedgenet-2013-101648

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