由于EDAR中的内基因重复引起的低性外皮性形
Lise Graversen1, Mette Sommerlund2, Casper Kruse3
1Department of Clinical Genetics, Aarhus University Hospital, Olof Palmes Allé 49, 8200 Aarhus N, Denmark.
European journal of medical genetics
|October 30, 2024
概括
缺水性外皮发育不良症 (HED) 是一种罕见的遗传性疾病. 这项研究确定了一种新的EDAR基因重复是导致HED和乳腺质症的原因.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 人体生理学 人体生理学
背景情况:
- 缺水性外皮性形症 (HED) 的特征是缺水症,缺水症和缺牙症.
- 在EDAR基因中的致病变异导致10-15%的HED病例,通常是错误或无意义的突变.
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