Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
双等位基因 CCDC47 变异可导致以卷曲毛发、肝功能障碍、畸形特征和整体发育迟缓为特征的疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.09.014
Marie Morimoto, Helen Waller-Evans, Zineb Ammous, Xiaofei Song, Kevin A Strauss, Davut Pehlivan, Claudia Gonzaga-Jauregui, Erik G Puffenberger, Charles R Holst, Ender Karaca, Karlla W Brigatti, Emily Maguire, Zeynep H Coban-Akdemir, Akiko Amagata, C Christopher Lau, Xenia Chepa-Lotrea, Ellen Macnama