Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
报告在三个互不相关的硫胺素代谢功能障碍综合征5型家族中发现一种新的复发性纯合变异c.620A>T,并进行文献综述
期刊:Clinical Dysmorphology
影响因子:0.5
doi:10.1097/MCD.0000000000000490
Mascarenhas, Selinda; Yeole, Mayuri; Rao, Lakshmi Priya; do Rosario, Michelle C; Majethia, Purvi; Nair, Karthik Vijay; Sharma, Suvasini; Barala, Praveen Kumar; Puri, Ratna Dua; Pal, Swasti; Siddiqui, Shahyan; Shukla, Anju