一名畸形男孩的6号染色体长臂间质性缺失 - Suppr

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超能文献

Interstitial deletion 6q in a malformed boy.

作者信息

Nakagome Y, Tanaka T, Hashimoto T, Kuyama M, Maruyama M

出版信息

Ann Genet. 1980;23(1):49-51.

PMID:6965841

Abstract

摘要

相似文献

Interstitial deletion 6q in a malformed boy.一名畸形男孩的6号染色体长臂间质性缺失

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De novo interstitial deletion q16.2q21 on chromosome 6.6号染色体新发间质缺失q16.2q21。

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[Monosomy 7qter (author's transl)].

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Proximal interstitial 6q deletion: a recognizable syndrome.近端间质6q缺失：一种可识别的综合征。

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.包括SIM1在内的6q16缺失的不完全外显率和表型变异性。

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.6q 染色体间区缺失的基因型-表型相关性：12 例新病例报告。

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