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Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
Vogel, Markus; Velleuer, Eunike; Schmidt-Jiménez, Leon F; Mayatepek, Ertan; Borkhardt, Arndt; Alawi, Malik; Kutsche, Kerstin; Kortüm, Fanny.
Afiliação
  • Vogel M; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.
  • Velleuer E; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Heinrich Heine University, Düsseldorf, Germany.
  • Schmidt-Jiménez LF; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.
  • Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Heinrich Heine University, Düsseldorf, Germany.
  • Alawi M; University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany.
  • Kutsche K; Center for Bioinformatics, University of Hamburg, Hamburg, Germany.
  • Kortüm F; Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.
Am J Med Genet A ; 170(7): 1813-9, 2016 07.
Article em En | MEDLINE | ID: mdl-27144914
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Predisposição Genética para Doença / Paralisia Facial / Exoma Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Predisposição Genética para Doença / Paralisia Facial / Exoma Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article