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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
Stephen, Joshi; Nampoothiri, Sheela; Vinayan, K P; Yesodharan, Dhanya; Remesh, Preetha; Gahl, William A; Malicdan, May Christine V.
Afiliação
  • Stephen J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
  • Vinayan KP; Department of Pediatric Neurology, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
  • Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
  • Remesh P; Department of Pediatrics and Neonatology, Aster MIMS, Kozhikode, Kerala, India.
  • Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute and the Common Fund, 10C-103 10 Center Drive, Bethesda, MD, 20892, USA.
BMC Med Genet ; 19(1): 80, 2018 05 16.
Article em En | MEDLINE | ID: mdl-29769041
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrinogênio / Córtex Cerebral / Afibrinogenemia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrinogênio / Córtex Cerebral / Afibrinogenemia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article