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Our study provides additional data for 25 (OH) D statuses that impact the outcomes of critically ill children. Copyright © 2020 Dang, Li, Liu and Xu.Background Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with UBA1 variants. Methods Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused panel sequencing of UBA1 was carried out on samples of both the proband and his maternal relatives. Results The proband, a 4-year-old boy wi
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