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The Capital Region of Denmark - a part of Copenhagen University Hospital
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

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  1. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

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  2. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

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

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  2. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

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  3. Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting

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  • Anna-Maja Molin
  • J Andrieux
  • D A Koolen
  • V Malan
  • M Carella
  • L Colleaux
  • V Cormier-Daire
  • A David
  • N de Leeuw
  • B Delobel
  • B Duban-Bedu
  • R Fischetto
  • F Flinter
  • S Kjaergaard
  • F Kok
  • A C Krepischi
  • C Le Caignec
  • C Mackie Ogilvie
  • S Maia
  • M Mathieu-Dramard
  • A Munnich
  • O Palumbo
  • F Papadia
  • R Pfundt
  • W Reardon
  • A Receveur
  • M Rio
  • L Ronsbro Darling
  • C Rosenberg
  • J Sá
  • L Vallee
  • C Vincent-Delorme
  • L Zelante
  • M-L Bondeson
  • G Annerén
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Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.
Original languageEnglish
JournalJournal of Medical Genetics
Volume49
Issue number2
Pages (from-to)104-9
Number of pages6
ISSN0022-2593
DOIs
Publication statusPublished - 2012

    Research areas

  • Chromosome Deletion, Chromosomes, Human, Pair 3, Developmental Disabilities, Facies, Female, Genetic Association Studies, Genitalia, Male, Growth Disorders, Humans, Male, Nerve Tissue Proteins, Receptors, Dopamine D3, Syndrome, Transcription Factors

ID: 36821021