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机译:A novel frameshift mutation in Allan-Herndon-Dudley syndrome
Tongji Med Coll,Huazhong Univ Sci & Technol;
Forensic pathology; Allan-Herndon-Dudley syndrome; SLC16A2 gene; Monocarboxylate transporter 8; Myelination; THYROID-HORMONE TRANSPORTER; HYPOMYELINATING LEUKODYSTROPHIES; CLINICAL PHENOTYPE; SUDDEN-DEATH; MCT8; ABNORMALITIES; ASSOCIATION; DEFICIENCY; HEMORRHAGE;