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NF1 Exon 22 Analysis of Individuals with the Clinical Diagnosis of Neurofibromatosis Type 1

Café-au-lait macules are frequently seen in Ras-MAPK pathway disorders and are a cardinal feature of neurofibromatosis type 1 (NF1). Most NF1 individuals develop age-related tumorigenic manifestations (e.g. neurofibromas), although individuals with a specific 3-bp deletion in exon 22 of NF1 (c.2970_...

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Main Authors: Muram-Zborovski, Talia M., Vaughn, Cecily P., Viskochil, David H., Hanson, Heather, Mao, Rong, Stevenson, David A.
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910813/
https://ncbi.nlm.nih.gov/pubmed/20602485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33525
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