De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy - Concepedia

Concepedia

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

76

Citations

39

References

2018

Year

Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J. Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke

Journal of Medical Genetics

Abstract

A dominant <i>ELOVL1</i> mutation causes a neuro-ichthyotic disorder possibly amenable to treatment with PPAR-modulating drugs.

References

	Year	Citations

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