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A new X linked syndrome with mental retardation and craniofacial dysmorphism?

作者信息

Hyde-Forster I, McCarthy G, Berry A C

机构信息

Royal Alexandra Children's Hospital, Brighton, Sussex.

出版信息

J Med Genet. 1992 Oct;29(10):736-8. doi: 10.1136/jmg.29.10.736.

Abstract

We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not seem to fall into any previously described X linked syndrome with mental retardation.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9d9/1016135/383f04447f49/jmedgene00024-0059-a.jpg

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本文引用的文献

1
[The frequency of X-linked mental retardation].
Genetika. 1989 Jun;25(6):1128-30.
2
Non-specific X linked mental retardation.
J Med Genet. 1991 Jun;28(6):378-82. doi: 10.1136/jmg.28.6.378.
3
X linked mental retardation.X连锁智力迟钝
J Med Genet. 1991 Jun;28(6):361-71. doi: 10.1136/jmg.28.6.361.

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