X-linked mental retardation without physical abnormality: Renpenning's syndrome.

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作者信息

Turner G, Turner B, Collins E

出版信息

Dev Med Child Neurol. 1971 Feb;13(1):71-8. doi: 10.1111/j.1469-8749.1971.tb03033.x.

DOI:10.1111/j.1469-8749.1971.tb03033.x

PMID:4929082

Abstract

摘要

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X-linked mental retardation without physical abnormality: Renpenning's syndrome.

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.IQSEC2 鸟嘌呤核苷酸交换因子基因突变导致非综合征性智力障碍。

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X-linked mental retardation.X连锁智力迟钝

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X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.机构中同胞兄弟患无身体异常的X连锁智力迟钝（伦彭宁综合征）

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Non-specific X linked mental retardation.

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X-linked mental retardation associated with macro-orchidism.与巨睾症相关的X连锁智力障碍。

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