TY - GEN AU - Schossig,Anna AU - Bloch-Zupan,Agnès AU - Lussi,Adrian AU - Wolf,Nicole I AU - Raskin,Salmo AU - Cohen,Monika AU - Giuliano,Fabienne AU - Jurgens,Julie AU - Krabichler,Birgit AU - Koolen,David A AU - de Macena Sobreira,Nara Lygia AU - Maurer,Elisabeth AU - Muller-Bolla,Michèle AU - Penzien,Johann AU - Zschocke,Johannes AU - Kapferer-Seebacher,Ines TI - SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome SN - 1468-6244 PY - 2017///1101 KW - Alleles KW - Amelogenesis Imperfecta KW - genetics KW - Brain Diseases KW - Cohort Studies KW - Dementia KW - Epilepsy KW - Exome KW - Female KW - Genetic Linkage KW - Genetic Predisposition to Disease KW - Humans KW - Male KW - Membrane Proteins KW - Mutation KW - Nuclear Proteins KW - Pedigree KW - Symporters KW - Tooth N1 - Publication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1136/jmedgenet-2016-103988 ER -