遗传出血性毛细血管扩张症为常染色体显性遗传病,临床少见,本文就其病理变化、临床特点进行讨论,探讨其治疗方法。附一家系25例分析。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
AT M基因突变可导致共济失调毛细血管扩张症(AT),一种常染色体隐性遗传病,该病特点是不协调的肌肉运动和神经退化。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
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