Legius syndrome: case report and review of literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-015-0115-9.pdf
Reference12 articles.
1. Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am. 2010;57(5):1131–53.
2. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009;61(1):1–14.
3. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007;80(1):140–51.
4. Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, et al. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet 2014 Nov 5. [Epub ahead of print].
5. Ferrari F, Masurel A, Olivier-Faivre L, Vabres P. Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. JAMA Dermatol. 2014;150(1):42–6.
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