Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen, Chris Balak, Meredith Sanchez-Castillo, Marcus Naymik, Anna Bonfitto, Sampathkumar Rangasamy, Semyon Kruglyak, Matthew Huentelman, Vinodh Narayanan
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引用次数: 0
Abstract
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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