Cerebral hypomyelination associated with biallelic variants of FIG4
Guy Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Miriam Fanjul‐Fernandez, Victoria Rodriguez‐Casero, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Broad Center for Mendelian Genomics, Susan M White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y Tan, Richard J Leventer, John H Livingston, Miriam Meisler
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Guy Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A Hsu, Wolfram S Kunz, Miriam Meisler, Rafal Ploski
Response
Manoj P Menezes, Leigh Waddell, Guy Lenk, Simranpreet Kaur, Daniel G MacArthur, Miriam Meisler, Nigel F Clarke
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