当前位置: X-MOL 学术J. Clin. Endocrinol. Metab. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Higher CNV frequencies in Chromsome-14 of girls with Turner syndrome phenotype – A chromosomal microarray study
The Journal of Clinical Endocrinology & Metabolism ( IF 5.8 ) Pub Date : 2021-08-01 , DOI: 10.1210/clinem/dgab572
Naincy Purwar 1 , Pradeep Tiwari 1, 2 , Nitish Mathur 1 , Himanshu Sharma 1 , Rahul Sahlot 1 , Umesh Garg 1 , Balram Sharma 1 , Aditya Saxena 3 , Sandeep K Mathur 1
Affiliation  

Precise genotype-phenotype correlations in Turner syndrome (TS) have not yet been deciphered. The chromosomal basis of the clinical TS-phenotype in the absence of X chromosome aberrations on the conventional karyotyping remains more and less unexplored.

中文翻译:

特纳综合征表型女孩的 Chromsome-14 中更高的 CNV 频率——一项染色体微阵列研究

尚未破译特纳综合征 (TS) 中精确的基因型-表型相关性。在常规核型分析中不存在 X 染色体畸变的情况下,临床 TS 表型的染色体基础仍然越来越少被探索。
更新日期:2021-08-01
down
wechat
bug