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ATR-X综合征
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作者 giuliano f. Badens C. +1 位作者 Richelme C. 杨周歧 《世界核心医学期刊文摘(儿科学分册)》 2006年第2期15-15,共1页
The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report... The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain, bringing up the interest of an effective collaboration between physicians and biologists. 展开更多
关键词 ATR-X综合征 X基因突变 精神发育迟滞 Α-地中海贫血 X连锁遗传 临床病例 分析结果 临床表现 生物学家 内科医生
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