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Article

Longitudinal phenotype development in a minipig model of neurofibromatosis type 1.

Scientific reports - 19 Mar 2020

Uthoff Johanna, Larson Jared, Sato Takashi S, Hammond Emily, Schroeder Kimberly E, Rohret Frank, Rogers Christopher S, Quelle Dawn E, Darbro Benjamin W, Khanna Rajesh, Weimer Jill M, Meyerholz David K, Sieren Jessica C

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presentations. Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, we studied a NF1 minipig model (NF1+/ex42del) for the first 12 months of life to evaluate phenotype development, track disease progression, and provide a comparison to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32193437
DOI: 10.1038/s41598-020-61251-4
PMCID: PMC7081358

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