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
Journal of Medical Genetics Jan 2017, 54 (1) 54-62; DOI: 10.1136/jmedgenet-2016-103988