SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
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Author / Creator
Schossig, Anna , Bloch-Zupan, Agnès , Lussi, Adrian , Wolf, Nicole I , Raskin, Salmo , Cohen, Monika , Giuliano, Fabienne , Jurgens, Julie , Krabichler, Birgit , Koolen, David A , de Macena Sobreira, Nara Lygia , Maurer, Elisabeth , Muller-Bolla, Michèle , Penzien, Johann , Zschocke, Johannes and Kapferer-Seebacher, Ines
Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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Contents
BackgroundKohlschütter–Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations.MethodsIn the pre...
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Full title
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
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Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03680452v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03680452v1
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2016-103988
