Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

C.A.P.F. Alves; O. Sherbini; F. D’Arco; D. Steel; M.A. Kurian; F.C. Radio; G.B. Ferrero; D. Carli; M. Tartaglia; T.B. Balci; N.N. Powell-Hamilton; S.A. Schrier Vergano; H. Reutter; J. Hoefele; R. Günthner; E.R. Roeder; R.O. Littlejohn; D. Lessel; S. Lüttgen; C. Kentros; K. Anyane-Yeboa; C.B. Catarino; S. Mercimek-Andrews; J. Denecke; M.J. Lyons; T. Klopstock; E.J. Bhoj; L. Bryant; A. Vanderver

doi:10.3174/ajnr.A7555

Research ArticleBrain Tumor Imaging

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

C.A.P.F. Alves, O. Sherbini, F. D’Arco, D. Steel, M.A. Kurian, F.C. Radio, G.B. Ferrero, D. Carli, M. Tartaglia, T.B. Balci, N.N. Powell-Hamilton, S.A. Schrier Vergano, H. Reutter, J. Hoefele, R. Günthner, E.R. Roeder, R.O. Littlejohn, D. Lessel, S. Lüttgen, C. Kentros, K. Anyane-Yeboa, C.B. Catarino, S. Mercimek-Andrews, J. Denecke, M.J. Lyons, T. Klopstock, E.J. Bhoj, L. Bryant and A. Vanderver

American Journal of Neuroradiology July 2022, 43 (7) 1048-1053; DOI: https://doi.org/10.3174/ajnr.A7555

C.A.P.F. Alves

aFrom the Division of Neuroradiology (C.A.P.F.A.)

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O. Sherbini

aaDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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F. D’Arco

dDepartments of Radiology (F.D.)

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D. Steel

eNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK

fMolecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK

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M.A. Kurian

eNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK

fMolecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK

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F.C. Radio

gGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy

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G.B. Ferrero

hDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy

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D. Carli

hDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy

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M. Tartaglia

gGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy

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T.B. Balci

iMedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada

jDepartment of Paediatrics (T.B.B.),Western University, London, Ontario, Canada

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N.N. Powell-Hamilton

kDivision of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware

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S.A. Schrier Vergano

lDivision of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia

mDepartment of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia

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H. Reutter

nDivision of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany

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J. Hoefele

oInstitute of Human Genetics (J.H., R.G.)

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R. Günthner

oInstitute of Human Genetics (J.H., R.G.)

pDepartment of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany

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E.R. Roeder

qDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas

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R.O. Littlejohn

qDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas

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D. Lessel

rInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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S. Lüttgen

rInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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C. Kentros

sDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York

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K. Anyane-Yeboa

sDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York

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C.B. Catarino

tFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany

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S. Mercimek-Andrews

wDepartment of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada

xDepartment of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada

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J. Denecke

yDepartment of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany

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M.J. Lyons

zGreenwood Genetic Center (M.J.L.), Greenwood, South Carolina

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T. Klopstock

tFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany

uGerman Center for Neurodegenerative Diseases (T.K.), Munich, Germany

vMunich Cluster for Systems Neurology (T.K.), Munich, Germany

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E.J. Bhoj

bDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.)

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L. Bryant

bDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.)

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A. Vanderver

cDepartment of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania

aaDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

American Journal of Neuroradiology Jul 2022, 43 (7) 1048-1053; DOI: 10.3174/ajnr.A7555

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Brain Abnormalities in H3F3 Variants

American Journal of Neuroradiology Jul 2022, 43 (7) 1048-1053; DOI: 10.3174/ajnr.A7555

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