De novo mutation in ELOVL1...

Journal of Medical Genetics 2018 / 11

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

Mueller, Noomi, Sassa, Takayuki, Morales-Gonzalez, Susanne, Schneider, Joanna, Salchow, Daniel J, Seelow, Dominik, Knierim, Ellen, Stenzel, Werner, Kihara, Akio, Schuelke, Markus
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Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2018-105711
Date:
November, 2018
File:
PDF, 11.24 MB
english, 2018
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