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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3756527/
https://ncbi.nlm.nih.gov/pubmed/23812910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101648
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