Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101174
Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J