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A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1.

作者信息

Morris Stephanie M, Gutmann David H

机构信息

From Washington University School of Medicine, St. Louis, MO.

出版信息

Neurology. 2018 Feb 20;90(8):377-379. doi: 10.1212/WNL.0000000000005000. Epub 2018 Jan 24.

Abstract
摘要

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Children with 5'-end gene mutations are more likely to have glioma.
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Updated nomenclature for human and mouse neurofibromatosis type 1 genes.
Neurol Genet. 2017 Jul 26;3(4):e169. doi: 10.1212/NXG.0000000000000169. eCollection 2017 Aug.
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Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Hum Genet. 2017 Apr;136(4):349-376. doi: 10.1007/s00439-017-1766-y. Epub 2017 Feb 17.
5
Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I.
J Pediatr. 2015 Sep;167(3):621-6.e1. doi: 10.1016/j.jpeds.2015.04.075. Epub 2015 Jun 4.
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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
J Med Genet. 2003 Jun;40(6):e82. doi: 10.1136/jmg.40.6.e82.

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