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Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
Morscher, Raphael Johannes; Rauscher, Christian; Sperl, Wolfgang; Rittinger, Olaf.
Afiliação
  • Morscher RJ; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: raphael.morscher@pmu.ac.at.
  • Rauscher C; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Sperl W; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Rittinger O; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
Seizure ; 50: 118-120, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28651123
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Genes / Demência / Epilepsia / Amelogênese Imperfeita Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Genes / Demência / Epilepsia / Amelogênese Imperfeita Limite: Child / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article