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A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Canpolat, Nur; Liu, Dingxiao; Atayar, Emine; Saygili, Seha; Kara, Nazli Sila; Westfall, Trudi A; Ding, Qiong; Brown, Bartley J; Braun, Terry A; Slusarski, Diane; Karli Oguz, Kader; Ozluk, Yasemin; Tuysuz, Beyhan; Tastemel Ozturk, Tugba; Sever, Lale; Sezerman, Osman Ugur; Topaloglu, Rezan; Caliskan, Salim; Attanasio, Massimo; Ozaltin, Fatih.
Afiliação
  • Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Liu D; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Atayar E; Department of Vascular Surgery, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Saygili S; Nephrogenetics Laboratory, Department of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
  • Kara NS; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Westfall TA; Biostatistics and Medical Informatics Program, Faculty of Medicine, Graduate School of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Ding Q; Department of Biology, University of Iowa, Iowa City, Iowa, USA.
  • Brown BJ; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Braun TA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA.
  • Slusarski D; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA.
  • Karli Oguz K; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA.
  • Ozluk Y; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Tuysuz B; Department of Pathology, Istanbul University Faculty of Medicine, Istanbul, Turkey.
  • Tastemel Ozturk T; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Sever L; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Sezerman OU; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Topaloglu R; Biostatistics and Medical Informatics Program, Faculty of Medicine, Graduate School of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Caliskan S; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Attanasio M; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Ozaltin F; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Clin Genet ; 101(3): 346-358, 2022 03.
Article em En | MEDLINE | ID: mdl-34964109
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome Hemolítico-Urêmica Atípica / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome Hemolítico-Urêmica Atípica / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia