ATR-X Syndrome mimicking Down syndrome: A diagnostic challenge with psychiatric implications.
作者信息
Patra Sriparno, Ghosh Soumitra, Saharia Barasha
机构信息
Department of Psychiatry, Kokrajhar Medical College, Kokrajhar, Assam, India E-mail:
Department of Psychiatry, Assam Medical College, Dibrugarh, Assam, India.
出版信息
Indian J Psychiatry. 2025 Jun;67(6):648-649. doi: 10.4103/indianjpsychiatry.indianjpsychiatry_231_25. Epub 2025 May 16.
Abstract
摘要
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Prenatal Invasive Testing at a Tertiary Referral Center in India: A Report of 433 Cases Under a Single Operator.印度一家三级转诊中心的产前侵入性检测：一名医生操作的433例报告。
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ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.ATR-X 综合征蛋白靶向串联重复序列，并以大小依赖的方式影响等位基因特异性表达。
Cell. 2010 Oct 29;143(3):367-78. doi: 10.1016/j.cell.2010.09.023.
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Alpha thalassaemia-mental retardation, X linked.X连锁α地中海贫血-智力发育迟缓综合征
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