ELOVL1

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features
Anna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, Kamila Kłosowska-Kosicka, Adriana Mika, Jakub Gruchota, Elżbieta Jurkiewicz, Cezary Kowalewski, Agnieszka Pollak, Teresa Joanna Stradomska, Tomasz Kmieć, Rafał Jakubowski, Piotr Gasperowicz, Anna Walczak, Dariusz Śladowski, Ewa Jankowska-Steifer, Lech Korniszewski, Joanna Kosińska, Ewa Obersztyn, Wieslaw Nowak, Tomasz Śledziński, Andrzej Dziembowski, Rafał Płoski

Journal of Medical Genetics Jun 2018, 55 (6) 408-414; DOI: 10.1136/jmedgenet-2017-105172

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ELOVL1