Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

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第一作者： Joshi,Stephen

第一单位： Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

作者： Joshi,Stephen ^[1] ; Sheela,Nampoothiri ^[2] ; K P,Vinayan ^[3] ; Dhanya,Yesodharan ^[2] ; Preetha,Remesh ^[4] ; William A,Gahl ^[1] ; May Christine V,Malicdan ^[5]

作者单位： Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. ^[1] Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India. ^[2] Department of Pediatric Neurology, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India. ^[3] Department of Pediatrics and Neonatology, Aster MIMS, Kozhikode, Kerala, India. ^[4] NIH Undiagnosed Diseases Program, National Human Genome Research Institute and the Common Fund, 10C-103 10 Center Drive, Bethesda, MD, 20892, USA. ^[5] Office of the Clinical Director, NHGRI, and the NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. ^[6] Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov. ^[7] NIH Undiagnosed Diseases Program, National Human Genome Research Institute and the Common Fund, 10C-103 10 Center Drive, Bethesda, MD, 20892, USA. malicdanm@mail.nih.gov. ^[8] Office of the Clinical Director, NHGRI, and the NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov. ^[9]

关键词 Blended phenotypes Cerebral atrophy Exome sequencing FGG Hypofibrinogenemia TBCD