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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Cannaerts, Elyssa; Shukla, Anju; Hasanhodzic, Mensuda; Alaerts, Maaike; Schepers, Dorien; Van Laer, Lut; Girisha, Katta M; Hojsak, Iva; Loeys, Bart; Verstraeten, Aline.
Afiliação
  • Cannaerts E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education, Manipal, India.
  • Hasanhodzic M; Department of Endocrinology, Metabolic Diseases and Genetics, University Clinical Center Tuzla, Children's hospital, Tuzla, Bosnia and Herzegovina.
  • Alaerts M; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.
  • Schepers D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.
  • Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education, Manipal, India.
  • Hojsak I; Referral Center for Pediatric Gastroenterology and Nutrition, Children's Hospital Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Loeys B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.
  • Verstraeten A; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
BMC Med Genet ; 19(1): 140, 2018 08 08.
Article em En | MEDLINE | ID: mdl-30089473
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Tecido Conjuntivo / Filaminas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Tecido Conjuntivo / Filaminas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article