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Paper Details

Risk of sudden cardiac death in EXOSC5-related disease.
Am J Med Genet A
6
2021
EXOSC3, EXOSC5, EXOSC5 variants, EXOSC5-related disease, EXOSC8, EXOSC9, Mendelian disorders, NM_020158, RNA, Thr101Lys, VT, arrhythmias, atrioventricular block, autosomal recessive neurodevelopmental disorder, c., c.302C>A, c.341C, c.341C>T, cardiac conduction abnormalities, cerebellar abnormalities, cerebellar volume loss, complete heart block, developmental delay, distinctive facies, dysmorphic, hearing loss, hypomyelination, hypotonia, intraventricular conduction delay, microcephaly, p.Thr101Lys, p.Thr114Ile, pontocerebellar hypoplasia, retinitis pigmentosa, short stature, sinus node dysfunction, sudden cardiac death, ventricular tachycardia
Author NameAffiliation
Shalini N JhangianiBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Zeynep Coban AkdemirSchool of Public Health, The University of Texas Health Science Center at Houston
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Christina Y MiyakeTexas Children's Hospital
Christina Y MiyakeBaylor College of Medicine
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