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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Duerinckx, Sarah; Meuwissen, Marije; Perazzolo, Camille; Desmyter, Laurence; Pirson, Isabelle; Abramowicz, Marc.
Afiliação
  • Duerinckx S; Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Meuwissen M; Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.
  • Perazzolo C; Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Desmyter L; Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Pirson I; Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Abramowicz M; Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
Mol Genet Genomic Med ; 2018 Apr 24.
Article em En | MEDLINE | ID: mdl-29693325
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE 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 Idioma: En Ano de publicação: 2018 Tipo de documento: Article