Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.
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| Description | scientific article published in January 2013 |
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author: Valérie Malan Claudia Santoro Stanislas Lyonnet Nathalie Boddaert |
| Publication date | January 1, 2013 |
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