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Article

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.

Journal of cutaneous medicine and surgery - 1 Jan 2000

Lara-Corrales Irene, Moazzami Mitra, García-Romero Maria Teresa, Pope Elena, Parkin Patricia, Shugar Andrea, Kannu Peter

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a...

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PMID: 28448720
DOI: 10.1177/1203475417708163

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