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Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia  Paul Kuentz, Cyril Mignot,

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Presentation on theme: "Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia  Paul Kuentz, Cyril Mignot,"— Presentation transcript:

1 Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia  Paul Kuentz, Cyril Mignot, Judith St-Onge, Yannis Duffourd, Bertille Bonniaud, Laurence Faivre, Jean-Baptiste Rivière, Pierre Vabres  Journal of Investigative Dermatology  Volume 136, Issue 5, Pages (May 2016) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 Clinical and magnetic resonance imaging (MRI) features of the index case. (a) Agminated melanocytic nevi on the upper trunk, (b) lower dorsal epidermal nevus, (c) right parietal woolly hair nevus, (d) right axillary epidermal nevus, (e, arrow) temporal cortical dysplasia, and (f, arrow) left frontal cerebral cavernous malformation (spherical mixed hypo and hyperintense lesion on T2-weighted images) on brain MRI. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Integrative Genomics Viewer whole exome sequencing results for the BRAF c.1803A>T variant. Levels of somatic chr7:g T>A BRAF variant in epidermal nevus. Mutant (A) allele (green): 21%, reference (T) allele (red): 79% (transcript NM_ ). Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

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