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Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
Kalailingam, Pazhanichamy; Wang, Kai Qi; Toh, Xiu Ru; Nguyen, Toan Q; Chandrakanthan, Madhuvanthi; Hasan, Zafrul; Habib, Clair; Schif, Aharon; Radio, Francesca Clementina; Dallapiccola, Bruno; Weiss, Karin; Nguyen, Long N.
Afiliação
  • Kalailingam P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Wang KQ; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Toh XR; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Nguyen TQ; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Chandrakanthan M; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Hasan Z; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Habib C; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.
  • Schif A; Pediatric Neurology Unit, Rambam Health Care Center, Ruth Children's Hospital, Haifa, Israel.
  • Radio FC; Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.
  • Weiss K; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.
  • Nguyen LN; Genetics Institute, Rambam Health Care Center, Haifa, Israel.
J Clin Invest ; 130(8): 4081-4093, 2020 08 03.
Article em En | MEDLINE | ID: mdl-32369449

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Barreira Hematoencefálica / Córtex Cerebral / Regulação da Expressão Gênica no Desenvolvimento / Neovascularização Fisiológica / Proteínas de Membrana / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Revista: J Clin Invest Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Singapura País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Barreira Hematoencefálica / Córtex Cerebral / Regulação da Expressão Gênica no Desenvolvimento / Neovascularização Fisiológica / Proteínas de Membrana / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Revista: J Clin Invest Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Singapura País de publicação: Estados Unidos