10:39 〜 11:13

[1AW-09-5] Integrated analysis of RIC1 mutations and phenome in a biobank identifies a rare Mendelian syndrome and novel collagen trafficking mechanisms

^○Ela Knapik^{1, 2, 3}, Gokhan Unlu^{1, 2, 3}, Kinsey Qi^{1, 2}, Eric Gamazon^{1, 2, 4}, David Melville¹, Nisha Patel^{5, 6}, Amy Rushing^{1, 2}, Mais Hashem⁵, Abdullah AlFaifi⁶, Rui Chen^{2, 7}, Bingshan Li^{2, 7}, Nancy Cox^{1, 2}, Fowzan Alkuraya⁵ (1.Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center 2.Vanderbilt Genetic Institute, Vanderbilt University Medical Center 3.Department of Cell and Developmental Biology, Vanderbilt University 4.Clare Hall, University of Cambridge 5.Department of Genetics, King Faisal Specialist Hospital and Research Center 6.Department of Pediatrics, Security Forces Hospital 7.Department of Molecular Physiology and Biophysics, Vanderbilt University)

l . 遺伝性疾患(4 . 高次生命現象・疾患)