Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
C3ORF52 的功能丧失变异导致局部常染色体隐性遗传性毛发稀少症
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-020-0794-5
Liron Malki, Ofer Sarig, Nicole Cesarato, Janan Mohamad, Talia Canter, Sari Assaf, Mor Pavlovsky, Dan Vodo, Yossi Anis, Ofer Bihari, Kiril Malovitski, Andrea Gat, Holger Thiele, Bethany E Perez White, Liat Samuelov, Arti Nanda, Amy S Paller, Regina C Betz, Eli Sprecher