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Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
McKenzie, Fiona; Mina, Kym; Callewaert, Bert; Beyens, Aude; Dickinson, Jan E; Jevon, Gareth; Papadimitriou, John; Diness, Birgitte Rode; Steensberg, Jesper Norman; Ek, Jakob; Baynam, Gareth.
Afiliación
  • McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
  • Mina K; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Callewaert B; Department of Diagnostic Genomics, PathWest, Perth, Western Australia, Australia.
  • Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Dickinson JE; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Jevon G; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Papadimitriou J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Diness BR; Department of Dermatology, Ghent University Hospital, Ghent, Belgium.
  • Steensberg JN; Maternal Fetal Medicine Service, King Edward Memorial Hospital, Perth, Western Australia, Australia.
  • Ek J; Division of Obstetrics and Gynaecology, The University of Western Australia, Perth, Western Australia, Australia.
  • Baynam G; Department of Paediatric Pathology, PathWest, Perth Children's Hospital, Perth, Western Australia, Australia.
Clin Genet ; 100(2): 168-175, 2021 08.
Article en En | MEDLINE | ID: mdl-33866545
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cutis Laxo / Proteína-Lisina 6-Oxidasa Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Australia
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cutis Laxo / Proteína-Lisina 6-Oxidasa Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Australia