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Updated: Jun 28, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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扩大深层表型谱与非典型的致病性结构变异相关,重叠15q11-q13印记区域

Rabeya Akter Mim1, Anjana Soorajkumar2, Noor Kosaji2

  • 1Genetics and Genomic Medicine Centre (GGMC), NeuroGen Healthcare, Dhaka, Bangladesh.

Brain and behavior
|April 15, 2024
PubMed
概括

在15q11-q13区域的基因组印记影响神经发育. 这项研究确定了导致普拉德-威利综合征,安吉尔曼综合征和15q11-q13重复综合征的结构变异,建立了基因型-表型相关性.

关键词:
15q11q13重复综合征 (Dup15q综合征) 是一个安吉尔曼综合征是什么意思普拉德·威利综合征 (Prader-Willi综合征) 是一种染色体15q11q13的区域是15q11q13的区域.

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