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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-François; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Study, Ddd; Rivière, Jean-Baptiste; Brunner, Han G; Hoischen, Alexander; Newbury-Ecob, Ruth; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien.
Affiliation
  • Bruel AL; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Bigoni S; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France.
  • Kennedy J; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • Whiteford M; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • Buxton C; Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.
  • Parmeggiani G; University of Bristol, Glasgow, UK.
  • Wherlock M; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK.
  • Woodward G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • Greenslade M; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • Williams M; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • St-Onge J; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • Ferlini A; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • Garani G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • Ballardini E; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • van Bon BW; Department of Human Genetics, McGill University Health Centre, Montreal, Canada.
  • Acuna-Hidalgo R; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • Bohring A; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.
  • Deleuze JF; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy.
  • Boland A; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy.
  • Meyer V; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Olaso R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Ginglinger E; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster, Münster, Germany.
  • Study D; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France.
  • Rivière JB; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France.
  • Brunner HG; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France.
  • Hoischen A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France.
  • Newbury-Ecob R; Service de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France.
  • Faivre L; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Thauvin-Robinet C; Department of Human Genetics, McGill University Health Centre, Montreal, Canada.
  • Thevenon J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
J Med Genet ; 54(12): 830-835, 2017 12.
Article in En | MEDLINE | ID: mdl-29074562
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Autoantigens / Craniosynostoses / Genes, Recessive / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2017 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Autoantigens / Craniosynostoses / Genes, Recessive / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2017 Document type: Article Affiliation country: Country of publication: