首页> American journal of medical genetics. Part A> The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

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第一作者： Sabina,Cenciarelli

第一单位： Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.;Vita-Salute San Raffaele University, Milan, Italy.;Department of Biomedicine and Prevention, PhD in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy.

作者： Sabina,Cenciarelli ^[1] ; Giulia Bruna,Marchetti ^[2] ; Maria,Iascone ^[3] ; Maria Grazia,Patricelli ^[4] ; Sara,Giangiobbe ^[4] ; Gabriella Cinzia,Pozzobon ^[5] ; Miriam Nella,Savini ^[6] ; Fabio,Giglio ^[7] ; Alessandro,Aiuti ^[8] ; Paola,Carrera ^[9] ; Francesca,Ferrua ^[10] ; Angela,Peron ^[11]

作者单位： Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.;Vita-Salute San Raffaele University, Milan, Italy.;Department of Biomedicine and Prevention, PhD in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy. ^[1] Medical Genetics, Università Degli Studi di Milano, Milan, Italy. ^[2] Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital, Bergamo, Italy. ^[3] Unit of Medical Genetics, San Raffaele Scientific Institute, Milan, Italy. ^[4] Department of Pediatrics, San Raffaele Scientific Institute, Milan, Italy. ^[5] Unit of Neuropsychiatry of Childhood and Adolescence, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy. ^[6] Hematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. ^[7] Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.;Vita-Salute San Raffaele University, Milan, Italy. ^[8] Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy. ^[9] Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. ^[10] Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.;Department of Experimental and Clinical Biomedical Sciences "Mario Serio", Università Degli Studi di Firenze, Florence, Italy. ^[11]

关键词 Fanconi anemia XRCC2 genomic instability intellectual disability microcephaly

DOI 10.1002/ajmg.a.70171

PMID 42071175

发布时间 2026-05-03

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