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ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann, Teresa M; Stegerer, Annette; Riess, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Kläs, Rüdiger; Bouman, Arjan; Kuechler, Alma; Rittinger, Olaf.
Afiliação
  • Neuhann TM; MGZ Medizinisch Genetisches Zentrum, Munich, Germany.
  • Stegerer A; MGZ Medizinisch Genetisches Zentrum, Munich, Germany.
  • Riess A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Blair E; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Martin T; Gemeinschaftspraxis für Humangenetik, Homburg, Germany.
  • Wieser S; Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.
  • Kläs R; Synlab MVZ Humangenetik Mannheim, Mannheim, Germany.
  • Bouman A; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Rittinger O; Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.
Am J Med Genet A ; 167A(10): 2376-81, 2015 Oct.
Article em En | MEDLINE | ID: mdl-25975359
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Ectopia do Cristalino / Trombospondinas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Ectopia do Cristalino / Trombospondinas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article