New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
作者信息
Yano Shoji, Fujimoto Atsuko, Morin-Leisk Jeanne, Matumoto Naomichi, Miyake Noriko, Gillespie Meghan, Gao Harry
机构信息
Genetics Division, Pediatrics, LAC-USC Medical Center, University of Southern California, Los Angeles, California.
Fulgent Genetics, Temple City, California.
出版信息
Clin Genet. 2018 Nov;94(5):487-488. doi: 10.1111/cge.13436. Epub 2018 Sep 12.
PMID:30209809
Abstract
摘要
Zotero 插件