机译:Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Dept Biochem & Mol Biol,CHU Angers;
INSERM U1163,Paris Descartes Sorbonne Paris Cite Univ;
INSERM UMR 1163,Imagine InstENVT,Univ ToulouseRESTORE,Toulouse Univ HospAP HP,Hop Europeen Georges PompidouMitoVasc,Univ AngersLab Embryol & Genet Malformat,Univ ParisCtr Reference Anomalies Dev & Syndromes Malformat,CHU DijonDept Genet Med,CHU HautepierreNouvel Hop Civil,Hop Univ StrasbourgMed Genet Inst,Meir Med CtrEmedgene Technol,Genom Res DeptVictorian Clin Genet Serv,Murdoch Childrens Res InstInst Human Genet,Univ Med Ctr Hamburg EppendorfKasturba Med Coll,Manipal Acad Higher EducBroad Ctr Mendelian Genom,Broad Inst MIT & HarvardDept Neuromuscular Disorders,UCLInst Human Genet,Julius Maximilians Univ WurzburgImagine Inst,Univ ParisINSERM,Sorbonne UnivTubingen Hearing Res Ctr,Eberhard Karls Univ TubingenMol & Clin Sci Inst,St Georges Univ London;
INFLAMMATORY-BOWEL-DISEASE; NUCLEAR IMPORT; MUTATIONS; GENES; ZEBRAFISH;