| 概要 |
Neurodevelopmental disorder with seizures and joint laxity (NEDSJL) is a novel neurodevelopmental disorder characterized by global developmental delay, hypotonia, macrocephaly and failure to thrive. It has been reported that NEDSJL is caused by rare variants in a major spliceosomal RNA encoding gene, RNU5B-1.
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| 著者 |
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S |
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