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A sporadic case of tuberous sclerosis complex caused by a newly found heterozygous missense mutation of c.T1967C in TSC1 gene / 上海交通大学学报(医学版)
Article em Zh | WPRIM | ID: wpr-616394
Biblioteca responsável: WPRO
ABSTRACT
This paper reported a sporadic case of a 29-year-old Han female diagnosed with tuberous sclerosis complex (TSC) by next generation sequencing (NGS),one of genetic analysis techniques.She was admitted because of recurrent intractable seizure for 26 years,dizziness and headache for 3 months.Physical examination revealed angiofibromas over her face,shagreen patches in her lower back area,and hypomelanotic macules around her limbs and body.Cranial MRI manifested lesions on lateral ventricles,cerebellar vermis and left temporal lobe with abnormal signal changes on both sides of extensive cerebral cortex.A pathogenic and heterozygous missense mutation,c.T1967C,in exon 16 of her TSC1 gene was found via genetic tests,which has not yet been reported before.
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Texto completo: 1 Índice: WPRIM Idioma: Zh Revista: Journal of Shanghai Jiaotong University(Medical Science) Ano de publicação: 2017 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Idioma: Zh Revista: Journal of Shanghai Jiaotong University(Medical Science) Ano de publicação: 2017 Tipo de documento: Article