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Research ArticlePediatric Neuroimaging

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 June 2022, 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
iMedical Genetics 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 Children’s Hospital, Wilmington, Delaware
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S.A. Schrier Vergano
lDivision of Medical Genetics and Metabolism (S.A.S.V.), Children’s Hospital of The King’s 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, Children’s 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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Cite this article
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
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 Jun 2022, DOI: 10.3174/ajnr.A7555

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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
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
American Journal of Neuroradiology Jun 2022, DOI: 10.3174/ajnr.A7555
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