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Au-Kline Syndrome Natural History Study

This study aims to study the health and developmental outcomes of Au-Kline syndrome. Au-Kline syndrome is a genetic condition associated with intellectual disability and malformations. It is caused by mutation in the gene HNRNPK.

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Conditions de participation

  • Sexe:

    Male, Female, Intersex
  • Âges admissibles:

    0 to 90

Critères de participation

Inclusion Criteria:
Participants must have a confirmed diagnosis of Au-Kline syndrome, or a genetic change in the gene HNRNPK.
Exclusion Criteria:
Participants who do not have Au-Kline syndrome or a genetic change in the gene HNRNPK are not eligible.

Lieu de l'étude

University of Calgary
University of Calgary
Calgary, Alberta
Canada

Contactez l'équipe d'étude

Étude parrainée par
University of Calgary
Participants recherchés
Plus d'informations
ID de l'étude: REB20-0665