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

出版年份 2018 全文链接

标题

作者

关键词

出版物

Volume -, Issue -, Pages jmedgenet-2018-105711

出版商

BMJ

发表日期

2018-11-29

DOI

10.1136/jmedgenet-2018-105711

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