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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Wolthuis, David F G J; van Asbeck, Ellyze; Mohamed, Miski; Gardeitchik, Thatjana; Lim-Melia, Elizabeth R; Wevers, Ron A; Morava, Eva.
Afiliação
  • Wolthuis DF; Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Net
  • van Asbeck E; Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Net
  • Mohamed M; Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Net
  • Gardeitchik T; Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Net
  • Lim-Melia ER; Regional Medical Genetics Center, N.Y. Medical College, Valhalla, USA.
  • Wevers RA; Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands.
  • Morava E; Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: emoravakozicz@tulane.edu.
Eur J Paediatr Neurol ; 18(4): 511-5, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24767728
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Tecido Adiposo / Cútis Laxa / Aldeído Desidrogenase / Mutação Limite: Child, preschool / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2014 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Tecido Adiposo / Cútis Laxa / Aldeído Desidrogenase / Mutação Limite: Child, preschool / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2014 Tipo de documento: Article