Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population
We demonstrate <i>KCTD13</i> CNV deletion is strongly associated with hypospadias and its severity, but duplication is not, characterizing <i>KCTD13</i> genetic variation in more detail than previously described.
Authors
- Fang Chen (ORCID: https://orcid.org/0000-0002-0242-331X)
- Yijing Chen (ORCID: https://orcid.org/0000-0002-9732-6183)
- Min Wu (ORCID: https://orcid.org/0000-0001-5462-6920)
- Zhongzhong Chen (ORCID: https://orcid.org/0000-0001-6662-5837)
- Hua Xie (ORCID: https://orcid.org/0000-0003-2867-4114)
- Xiaoling Lin (ORCID: https://orcid.org/0000-0001-9084-7026)
- Zhou Li-jun (ORCID: https://orcid.org/0009-0003-5608-0476)
- Yichen Huang (ORCID: https://orcid.org/0009-0002-7229-7782)
- Yiqing Lv
Institutions
- Shanghai Jiao Tong University (CN)
- Shanghai Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3389/fped.2024.1409264
- Citations
- 1
- Primary Topic
- Urological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- Shanghai Municipal Health Commission
- Science and Technology Commission of Shanghai Municipality