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[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Mar 7;57(3):317-323. doi: 10.3760/cma.j.cn15330-20210525-00294.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022.
PMID: 35325944
Chinese.
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Ma X, Zhao L, Li L, Li X, Ding C, Ma J.
Ma X, et al.
Mol Genet Genomic Med. 2024 Mar;12(3):e2296. doi: 10.1002/mgg3.2296. Epub 2024 Feb 28.
Mol Genet Genomic Med. 2024.
PMID: 38419387
Free PMC article.
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