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Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic, Jelena; Parenti, Ilaria; Graul-Neumann, Luitgard; Ruiz Gil, Sara; Watrin, Erwan; Wendt, Kerstin S; Werner, Ralf; Strom, Tim M; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
Afiliação
  • Pozojevic J; Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany.
  • Parenti I; Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany.
  • Graul-Neumann L; Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Ruiz Gil S; Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany.
  • Watrin E; Faculté de Médecine, Institut de Génétique et Développement de Rennes, Rennes, France.
  • Wendt KS; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
  • Werner R; Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
  • Gillessen-Kaesbach G; Institute of Human Genetics, Lübeck, Germany.
  • Kaiser FJ; Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address: frank.kaiser@uksh.de.
Eur J Med Genet ; 61(11): 680-684, 2018 Nov.
Article em En | MEDLINE | ID: mdl-29155047
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Deficiências do Desenvolvimento / Deformidades Congênitas dos Membros / Síndrome de Cornélia de Lange Limite: Adult / Female / Humans / Infant / Male 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: Proteínas / Deficiências do Desenvolvimento / Deformidades Congênitas dos Membros / Síndrome de Cornélia de Lange Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article