Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

Publikation: Forskning - peer reviewBidrag til bog/antologi

  • Shahida Moosa
    Shahida MoosaInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Janine Altmüller
    Janine AltmüllerCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • T. Lyngbye
    T. LyngbyeDanmark
  • Rikke Christensen
    Rikke ChristensenDepartment of Clinical Genetics, Aarhus University HospitalDanmark
  • Yun Li
    Yun LiInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Peter Nürnberg
    Peter NürnbergCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.Tyskland
  • Gökhan Yigit
    Gökhan YigitInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Ida Vogel
  • Bernd Wollnik
    Bernd WollnikInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
OriginalsprogEngelsk
TitelMolecular Genetics & Genomic Medicine
Udgivelsesårjul. 2017
DOI
StatusUdgivet - jul. 2017

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