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Papers of the Week


2022 Nov 28


Mol Genet Genomic Med

Characterization of health concerns in people with neurofibromatosis type 1.

Authors

Fleming J, Morgan O, Wong C, Schlub TE, Berman Y
Mol Genet Genomic Med. 2022 Nov 28:e2077.
PMID: 36444392.

Abstract

Neurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was to characterize health concerns and quality of life (QOL) in a population cohort.