Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tönz syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference16 articles.
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2. (1984): “Ectodermal Dysplasias: A 1. Clinical and Genetic Study”. New York: Alan R. Liss, Inc.
3. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.
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1. Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review;Special Care in Dentistry;2023-06-26
2. Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants;American Journal of Medical Genetics Part A;2021-12-23
3. SLC13A5is the second gene associated with Kohlschütter–Tönz syndrome;Journal of Medical Genetics;2016-09-06
4. Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity;Human Mutation;2012-11-27
5. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome;European Journal of Medical Genetics;2012-05
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