Acta Metallurgica Sinica

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Diagnostic strategies in familial growth hormone deficiency.

WANG Chun-lin, LIANG Li.   

  1. Department of Pediatrics, the First Affiliated Hospital of Zhejiang University, Hangzhou 310003, China
  • Online:2014-08-06 Published:2014-07-28

家族性生长激素缺乏症的诊断思路

王春林梁黎   

  1. 作者单位:浙江大学医学院附属第一医院儿科,杭州 310003
  • 通讯作者: 梁黎 

Abstract:

Abstracts:Familial growth hormone deficiency is caused by genetic mutations and has three inherited modes: autosomal recessive, autosomal dominant and X-linked recessive. Genetic diagnosis is based on detailed history, a clear clinical phenotype and rational application of molecular biology methods.

Key words: growth hormone, gene, diagnosis

摘要:

家族性生长激素缺乏症是由遗传基因变异引起的,可分为常染色体隐性遗传、常染色体显性遗传、X染色体隐性遗传等模式。仔细采集病史、明确临床表型、合理应用分子生物学方法进行基因学诊断是明确遗传类型及找到相关突变基因的关键。

关键词: 生长激素, 基因, 诊断

CLC Number: