A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
LRRC32基因中一种新的纯合错义变异与一种新的综合征相关，该综合征包括腭裂、进行性玻璃体视网膜病变、生长迟缓和发育迟缓。
期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2022.859034
Hexner-Erlichman, Zufit; Fichtman, Boris; Zehavi, Yoav; Khayat, Morad; Jabaly-Habib, Haneen; Izhaki-Tavor, Lee S; Dessau, Moshe; Elpeleg, Orly; Spiegel, Ronen
