Kohlschütter-Tönz syndrome

  • SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
    Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie Jurgens, Birgit Krabichler, David A Koolen, Nara Lygia de Macena Sobreira, Elisabeth Maurer, Michèle Muller-Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer-Seebacher