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

Published 2018 View Full Article

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Title
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume -, Issue -, Pages jmedgenet-2018-105711
Publisher
BMJ
Online
2018-11-29
DOI
10.1136/jmedgenet-2018-105711

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