X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL（2025）
关键词
epsilon-trimethyllysine hydroxylase gene,TMLHE,levocarnitine,autism,intellectual disability,contextual neuropsychology,psychopathology
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