Clinical delineation and genotype–phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China
• The genotypes and phenotypes of patients with Kabuki syndrome in China have been described in detail. • Growth curves for patients with Kabuki syndrome in China have been established.
Authors
- Jun Tan (ORCID: https://orcid.org/0000-0001-9608-2917)
- Tingting Yu (ORCID: https://orcid.org/0000-0001-6030-9614)
- Guoying Chang (ORCID: https://orcid.org/0000-0003-0701-3544)
- Yulong Ding (ORCID: https://orcid.org/0000-0001-8490-5349)
- Yirou Wang (ORCID: https://orcid.org/0000-0002-7128-7657)
- Xiaojuan Ma (ORCID: https://orcid.org/0000-0001-7621-1304)
- Qian Li (ORCID: https://orcid.org/0000-0003-1300-3377)
- Niu Li (ORCID: https://orcid.org/0000-0001-6504-7633)
- Xiumin Wang (ORCID: https://orcid.org/0000-0002-2186-759X)
- Yao Chen (ORCID: https://orcid.org/0000-0002-2336-3432)
- Feihan Hu
- Xueqiong Xu
Institutions
- International Peace Maternity & Child Health Hospital (CN)
Publication Details
- Journal
- European Journal of Pediatrics
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1007/s00431-025-06103-x
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China