首页> American journal of medical genetics. Part A> Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

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第一作者： Bianca,Russell

第一单位： Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio.

作者： Bianca,Russell ^[1] ; Jennifer J,Johnston ^[2] ; Leslie G,Biesecker ^[2] ; Nancy,Kramer ^[3] ; Angela,Pickart ^[4] ; William,Rhead ^[4] ; Wen-Hann,Tan ^[5] ; Catherine A,Brownstein ^[5] ; L,Kate Clarkson ^[6] ; Amy,Dobson ^[6] ; Avi Z,Rosenberg ^[7] ; Samantha A Schrier,Vergano ^[8] ; Benjamin M,Helm ^[8] ; Rachel E,Harrison ^[9] ; John M,Graham ^[3]

作者单位： Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio. ^[1] National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland. ^[2] Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California. ^[3] Section of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin. ^[4] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts. ^[5] Greenwood Genetic Center, Columbia, South Carolina. ^[6] Laboratory of Pathology, National Cancer Institute, National Institute of Health, Bethesda, Maryland. ^[7] Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia. ^[8] Clinical Genetics Service, Nottingham University Hospitals Trust, Nottingham, United Kingdom. ^[9]

关键词 ASXL1 Bohring-Opitz syndrome Wilms tumor cyclic vomiting failure to thrive hypertrichosis intellectual disability myopia nevus flammeus