A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome
染色体微阵列分析在一名患有杰文斯综合征的成年患者中鉴定出一个350 kb的NEXMIF微缺失
期刊:Systematic Reviews
影响因子:3.9
doi:10.1186/s13643-026-03136-7
Jodalli, Praveen; Basheer N, Amitha; Shetty, Shishir Ram; Shenoy, Ramya; Rao, Ashwini; Satyarup, Dharmashree; Benvenuto, Mario; Costantino, Umberto; Palumbo, Pietro; Carella, Massimo; Castori, Marco; d’Orsi, Giuseppe; Palumbo, Orazio