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[Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].
Zhonghua Er Ke Za Zhi. 2024 Mar 25;62(4):351-356. doi: 10.3760/cma.j.cn112140-20230822-00122.
Zhonghua Er Ke Za Zhi. 2024.
PMID: 38527506
Chinese.
A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.
Yin H, Xie H, Zou J, Ye X, Liu Y, He C, Shangguan S, Liu H, Chen X, Chen X.
Yin H, et al.
BMC Pediatr. 2023 Mar 4;23(1):104. doi: 10.1186/s12887-023-03872-y.
BMC Pediatr. 2023.
PMID: 36870983
Free PMC article.
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