作者：
Nicole,Weisschuh [1]
;
Marc,Sturm [2]
;
Britta,Baumann [1]
;
Isabelle,Audo [3]
;
Carmen,Ayuso [4]
;
Beatrice,Bocquet [5]
;
Kari,Branham [6]
;
Brian P,Brooks [7]
;
Jaume,Catalá-Mora [8]
;
Roberto,Giorda [9]
;
John R,Heckenlively [10]
;
Robert B,Hufnagel [11]
;
Samuel G,Jacobson [12]
;
Ulrich,Kellner [13]
;
Sofia,Kitsiou-Tzeli [10]
;
Alexandre,Matet [11]
;
Loreto,Martorell Sampol [14]
;
Isabelle,Meunier [15]
;
Günther,Rudolph [16]
;
Dror,Sharon [17]
;
Katarina,Stingl [18]
;
Berthold,Streubel [7]
;
Balázs,Varsányi [8]
;
Bernd,Wissinger [19]
;
Susanne,Kohl [20]
作者单位：
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
[1]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[2]
Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
[3]
CHNO des Quinze-Vingts, INSERM-DHOS CIC1423, Paris, France.
[4]
Institute of Ophthalmology, University College of London, London, United Kingdom.
[5]
Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD UAM), Madrid, Spain.
[6]
Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
[7]
Centre National de Référence «Maladies Sensorielles Génétiques», Service Ophtalmologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France.
[8]
INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France.
[9]
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
[10]
National Eye Institute, National Institutes of Health, Bethesda, Maryland.
[11]
Ophthalmology, Hospital Sant Joan de Deu, Barcelona, Spain.
[12]
Molecular Biology Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
[13]
Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
[14]
Rare Retinal Disease Center, Augenzentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.
[15]
Department of Medical Genetics, National & Kapodistrian University of Athens, Athens, Greece.
[16]
Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
[17]
Laboratorio de Genética Molecular, Hospital Sant Joan de Deu, Barcelona, Spain.
[18]
Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
[19]
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
[20]
University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
[21]
Department of Pathology, Medical University of Vienna, Vienna, Austria.
[22]
Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
[23]
Department of Ophthalmology, University of Pécs Medical School, Pécs, Hungary.
[24]
DOI
10.1002/humu.23920
PMID
31544997
发布时间
2022-10-05
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