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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

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DOI

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  2. Haploinsufficiency of ARHGAP42 is associated with hypertension

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  3. The Global State of the Genetic Counseling Profession

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  4. Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

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  1. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

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  2. Phenotypic variability in Muenke syndrome-observations from five Danish families

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  3. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

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  4. Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

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  • Rob Hastings
  • Jan-Maarten Cobben
  • Gabriele Gillessen-Kaesbach
  • Judith Goodship
  • Hanne Buciek Hove
  • Susanne Kjærgaard
  • Helena Kemp
  • Helen Kingston
  • Peter Lunt
  • Sahar Mansour
  • Ruth McGowan
  • Kay Metcalfe
  • Catherine Murdoch-Davis
  • Mary Ray
  • Marlène Rio
  • Sarah Smithson
  • John Tolmie
  • Peter Turnpenny
  • Bregje van Bon
  • Dagmar Wieczorek
  • Ruth Newbury-Ecob
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Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume19
Issue number5
Pages (from-to)513-9
Number of pages7
ISSN1018-4813
DOIs
Publication statusPublished - 2011

    Research areas

  • Child, Preschool, Cholesterol, Comparative Genomic Hybridization, Craniosynostoses, Female, Humans, Infant, Intellectual Disability, Male

ID: 33280226