首页> American journal of medical genetics. Part A> Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.

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第一作者： Lisa M,Karger

第一单位： Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

作者： Lisa M,Karger ^[1] ; Bryn D,Webb ^[2] ; Lisa,Edelmann ^[1] ; Jun,Liao ^[3] ; Lakshmi,Mehta ^[4]

作者单位： Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. ^[1] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.;Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA. ^[2] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.;Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA. ^[3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.;Division of Clinical Genetics, Department of Pediatrics, Morgan Stanley Children's Hospital and Columbia University Medical Center, New York, New York, USA. ^[4]

关键词 Diamond Blackfan anemia RPL26 congenital malformations erythrocyte ADA limb anomalies