换一批
换一批Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
作者：
Lance H,Rodan [1]
;
Rebecca C,Spillmann [2]
;
Harley T,Kurata [3]
;
Shawn M,Lamothe [4]
;
Jasmine,Maghera [4]
;
Rami Abou,Jamra [4]
;
Anna,Alkelai [5]
;
Stylianos E,Antonarakis [6]
;
Isis,Atallah [7]
;
Omer,Bar-Yosef [8]
;
Frédéric,Bilan [9]
;
Kathrine,Bjorgo [10]
;
Xavier,Blanc [11]
;
Patrick,Van Bogaert [12]
;
Yoav,Bolkier [7]
;
Lindsay C,Burrage [13]
;
Björn U,Christ [10]
;
Jorge L,Granadillo [14]
;
Patricia,Dickson [15]
;
Kirsten A,Donald [16]
;
Christèle,Dubourg [17]
;
Aviva,Eliyahu [17]
;
Lisa,Emrick [16]
;
Kendra,Engleman [18]
;
Michaela Veronika,Gonfiantini [19]
;
Jean-Marc,Good [10]
;
Judith,Kalser [20]
;
Chiara,Kloeckner [21]
;
Guus,Lachmeijer [15]
;
Marina,Macchiaiolo [22]
;
Francesco,Nicita [23]
;
Sylvie,Odent [24]
;
Emily,O'Heir [24]
;
Xilma,Ortiz-Gonzalez [5]
;
Marta,Pacio-Miguez [25]
;
María,Palomares-Bralo [23]
;
Loren,Pena [26]
;
Konrad,Platzer [27]
;
Mathieu,Quinodoz [1]
;
Emmanuelle,Ranza [28]
;
Jill A,Rosenfeld [29]
;
Eliane,Roulet-Perez [30]
;
Avni,Santani [30]
;
Fernando,Santos-Simarro [31]
;
Ben,Pode-Shakked [32]
;
Cara,Skraban [5]
;
Rachel,Slaugh [33]
;
Andrea,Superti-Furga [34]
;
Isabelle,Thiffault [7]
;
Richard H,van Jaabrsveld [15]
;
Marie,Vincent [24]
;
Hong-Gang,Wang [35]
;
Pia,Zacher [36]
;
Undiagnosed Diseases Network [30]
;
Eric,Rush [10]
;
Geoffrey S,Pitt [37]
;
Ping Yee Billie,Au [36]
;
Vandana,Shashi [38]
作者单位：
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[1]
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[2]
Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
[3]
Department of Pharmacology, Alberta Diabetes Institute, University of Alberta, Edmonton, AB, Canada.
[4]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[5]
Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
[6]
Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
[7]
Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.
[8]
Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.
[9]
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
[10]
CHU de Poitiers, Service de Génétique, EA3808 NEUVACOD, Poitiers, France.
[11]
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
[12]
CHU d'Angers, Service de Pédiatrie, EA3808 NEUVACOD, Angers, France.
[13]
Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.
[14]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[15]
Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, SA, South Africa.
[16]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
[17]
Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.
[18]
University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France.
[19]
The Danek Gertner Insitute of Human Genetics, Sheba Medical Center, Tel-Hahsomer, Israel.
[20]
Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.
[21]
Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
[22]
Rare Diseases and Medical Genetic Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
[23]
Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland.
[24]
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[25]
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
[26]
Service de Génétique Clinique, Centre de référence "Maladies Rares" Anomalies du développement CLAD-Ouest, Hôpital SUD, Échirolles, France.
[27]
Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[28]
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[29]
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
[30]
Cincinnati Children's Hospital and Medical Center Cincinnati, Cincinnati, OH, USA.
[31]
University of Cincinnati College of Medicine Cincinnati, Cincinnati, OH, USA.
[32]
Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
[33]
Department of Ophthalmology, University of Basel, Basel, Switzerland.
[34]
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[35]
Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[36]
Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.
[37]
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[38]
Service de Génétique Médicale, CHU Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, Nantes, France.
[39]
Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.
[40]
The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
[41]
The Children's Mercy Hospital, Kansas City, MO, USA.
[42]
Department of Pediatrics University of Missouri-Kansas City, Kansas City, MO, USA.
[43]
Department of Internal Medicine, University of Kansas Medical Center, Kansas City, MO, USA.
[44]
Alberta Children's Hospital Research Institute, Department of Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
[45]
Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA. vandana.shashi@duke.edu.
[46]
DOI
10.1038/s41436-021-01306-7
PMID
34522029
发布时间
2024-02-22
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Genetics in medicine
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