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Updated: Sep 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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基因型-表型对应在患有因21-基酶缺乏症导致的先天性上腺增生症的儿童中,使用下一代测序

Nurgul Atas1, Murat Karaoglan1, Gülper Nacarkahya2

  • 1Department of Pediatric Endocrinology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.

Molecular genetics & genomic medicine
|June 24, 2025
PubMed
概括

患有21-基酶缺乏症 (21-OHD) 的儿童与严重变异具有强烈的基因型-表型相关性,但与较轻的变异具有较弱的联系. 这凸显了21-OHD基因型的复杂性和当前测序方法的潜在局限性.

关键词:
21 基酶缺乏症 基酶缺乏症这是一种CYP21A2基因突变.基因型表型相关性相关性

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