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Klin Padiatr
DOI: 10.1055/a-2755-2945
Short Communication

A novel NT5C2 Variant in a Family with Spastic Paraplegia and Intellectual Disability

Eine neuartige NT5C2-Variante in einer Familie mit Spastischer Paraplegie und Intellektueller Beeinträchtigung

Authors

  • Deniz Yasar

    1   Pediatrics, Ataturk University, Erzurum, Turkey (Ringgold ID: RIN37503)
    2   Department of Pediatrics, Ministry of Health Ankara Etlik City Hospital, Ankara, Turkey (Ringgold ID: RIN649432)
  • Abdullah Sezer

    3   Medical Genetics, Ministry of Health Ankara Etlik City Hospital, Ankara, Turkey (Ringgold ID: RIN649432)
  • Bahadır Konuskan

    4   Pediatric Neurology, Ministry of Health Ankara Etlik City Hospital, Ankara, Turkey (Ringgold ID: RIN649432)
  • Deniz Yuksel

    4   Pediatric Neurology, Ministry of Health Ankara Etlik City Hospital, Ankara, Turkey (Ringgold ID: RIN649432)