De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
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D. Seelow | M. Schuelke | W. Stenzel | A. Kihara | E. Knierim | T. Sassa | D. Salchow | J. Schneider | S. Morales-Gonzalez | Noomi Mueller