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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.8
Nataliya Di Donato 1 , Andrew E Timms 2 , Kimberly A Aldinger 3 , Ghayda M Mirzaa 3, 4 , James T Bennett 2, 4 , Sarah Collins 3 , Carissa Olds 3 , Davide Mei 5 , Sara Chiari 5 , Gemma Carvill 4, 6 , Candace T Myers 4 , Jean-Baptiste Rivière 7 , Maha S Zaki 8 , , Joseph G Gleeson 9 , Andreas Rump 1 , Valerio Conti 5 , Elena Parrini 5 , M Elizabeth Ross 10 , David H Ledbetter 11 , Renzo Guerrini 5 , William B Dobyns 3, 4, 12
Affiliation  

To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.

中文翻译:


对 17 个基因的分析检测出 811 名无脑畸形患者中 81% 的突变。



评估 811 名无脑畸形或皮质下带异位患者的队列的诊断率和基因型-表型相关性。
更新日期:2018-04-19
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