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Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population

BackgroundCNV in KCTD13 has been identified to influence androgen receptor function via its changes in gene dosage, which might contribute to hypospadias. However, there is lack of population-level evidence to assess the contribution of KCTD13 CNV to hypospadias.Methods349 isolated hypospadias patie...

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Principais autores: Yijing Chen, Lijun Zhou, Fang Chen, Zhongzhong Chen, Yichen Huang, Yiqing Lv, Min Wu, Xiaoling Lin, Hua Xie
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2024-09-01
coleção:Frontiers in Pediatrics
Assuntos:
copy number variation
isolated hypospadias
Chinese children
KCTD13
severity
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2024.1409264/full
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