伴有X染色体异常和巨睾症的家族性X连锁智力障碍。 - Suppr

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超能文献

Familial X-linked mental retardation with an X chromosome abnormality and macro-orchidism.

作者信息

Sutherland G R, Judge C G, Wiener S

出版信息

J Med Genet. 1980 Feb;17(1):73-4. doi: 10.1136/jmg.17.1.73.

DOI:10.1136/jmg.17.1.73

PMID:7189219

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048497/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/206f/1048497/51a5cf6c7867/jmedgene00123-0080-a.jpg

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引用本文的文献

Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.一个家系中存在脆性（X）（q27）位点，家系中的女性携带者表现出轻度至重度智力发育迟缓。

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Further delineation of X-linked mental retardation.

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Nonspecific X-linked mental retardation--a review.非特异性X连锁智力迟钝——综述

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Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.人类染色体上的遗传性脆性位点。III. 在患有X连锁智力障碍的男性及其女性亲属中检测fra(X)(q27)

Hum Genet. 1979;53(1):23-7. doi: 10.1007/BF00289445.

本文引用的文献

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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Inherited congenital normofunctional testicular hyperplasia and mental deficiency.遗传性先天性正常功能睾丸增生与智力缺陷。

Hum Genet. 1976 Jul 7;33(1):23-33. doi: 10.1007/BF00447283.

Familial X-linked mental retardation with an X chromosome abnormality.

J Med Genet. 1977 Feb;14(1):46-50. doi: 10.1136/jmg.14.1.46.

Marker X chromosomes, mental retardation and macro-orchidism.

N Engl J Med. 1978 Dec 28;299(26):1472. doi: 10.1056/NEJM197812282992625.

Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study.

Hum Genet. 1978 Apr 24;41(3):331-9. doi: 10.1007/BF00284767.

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