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Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Mol Genet Genomic Med. 2024 Jan;12(1):e2327. doi: 10.1002/mgg3.2327. Epub 2023 Nov 30.
Mol Genet Genomic Med. 2024.
PMID: 38037515
Free PMC article.
Review.
[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of STRC bialleles].
He J, Hui L, Zhang JJ, Hao SJ, Feng X.
He J, et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Dec 7;59(12):1299-1304. doi: 10.3760/cma.j.cn115330-20240222-00099.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024.
PMID: 39734283
Chinese.
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