Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
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| Description | scientific article published in March 2018 |
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author: Lech Korniszewski Małgorzata Rydzanicz Elżbieta Jurkiewicz Anna Walczak Tomasz Kmieć Cezary Kowalewski Andrzej Dziembowski Adriana Mika Tomasz Sledzinski Piotr Gasperowicz Teresa J Stradomska Ewa Jankowska-Steifer Wieslaw Nowak Ewa Obersztyn Rafał Płoski Agnieszka Pollak Anna Kutkowska-Kazmierczak |
| Publication date | March 1, 2018 |
| Language | English |
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