MedPix Video - The Phakomatoses: von Recklinghausen Neurofibromatosis (NF1)

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07/10/23

NF1 is the 3rd most common autosomal disorder, caused by loss of a tumor suppressor gene on 17q. Cafe-au-lait macules, cutaneous and PNS neurofibromas, optic pathway gliomas, and many other lesions are common.

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