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A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome

  • Published:2018-01 Issue:1 Volume:125 Page:e8-e11
  • ISSN:2212-4403
  • Container-title:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
  • language:en
  • Short-container-title:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author:

Aswath Nalini,Ramakrishnan Sankar Narayanan,Teresa Nithya,Ramanathan Arvind

Funder

Central Research Funding Authority of Sree Balaji Medical

Dental College and Hospital, Bharath University

Publisher

Elsevier BV

Subject

Radiology Nuclear Medicine and imaging,Dentistry (miscellaneous),Pathology and Forensic Medicine,Oral Surgery,Surgery

Reference12 articles.

1. Mutations in ROGDI cause Kohlschütter-Tönz syndrome;Schossig;Am J Hum Genet,2012

2. A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome;Mory;Am J Hum Genet,2012

3. Familial epilepsy and yellow teeth—a disease of the CNS associated with enamel hypoplasia;Kohlschütter;Helv Paediatr Acta,1974

4. A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features;Christodoulou;J Med Genet,1988

5. Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta;Zlotogora;Am J Med Genet,1993
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