三个兄弟姐妹的生长激素缺陷为罕见的GH1亚型的同卵性

Ana Cláudia Ribeiro1, Omneya Magdy Omar2, Ebtesam Abdalla3

  • 1RISE-Health, Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.

PubMed
概括

在生长激素1 (GH1) 基因促进区的一个罕见的遗传变异被确定为三个兄弟姐妹中孤立生长激素缺乏症 (IGHD) 的原因. 这种同卵性单双型突出显示了非编码DNA变异在内分泌疾病中的作用.

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