Mutation analysis of the SLC26A4 gene in three Chinese families
C Wen, S Wang, X Zhao, X Wang, X Wang… - Bioscience …, 2019 - jstage.jst.go.jp
In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A)
with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese …
with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese …
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
Y Huang, L Li, L Pan, X Ling, C Wang, C Huang… - Frontiers in …, 2023 - frontiersin.org
Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations
in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to …
in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to …
Analysis of mutations in the FOXI1 and KCNJ10 genes in infants with a single-allele SLC26A4 mutation
X Zhao, X Cheng, L Huang, X Wang, C Wen… - Bioscience …, 2019 - jstage.jst.go.jp
The current study investigated how the FOXI1 and KCNJ10 genes were affected in infants
with a single-allele mutation in the SLC26A4 gene, and it determined the audiological …
with a single-allele mutation in the SLC26A4 gene, and it determined the audiological …
[引用][C] 中国人群新生儿常见耳聋基因筛查研究进展
邓苙， 丛林海， 方红丽， 高慧芳， 殷家志 - 昆明医科大学学报, 2024 - kyxuebao.kmmu.edu.cn
先天性耳聋已成为常见的致残性疾病, 且多数与遗传因素有关, 新生儿耳聋基因诊断已经逐步
成为新生儿预防及诊断耳聋疾病的必不可少的检查项目. 在我国常见的耳聋基因主要为GJB2 …
成为新生儿预防及诊断耳聋疾病的必不可少的检查项目. 在我国常见的耳聋基因主要为GJB2 …
[PDF][PDF] 牛牙症1 例及其家系的临床特点并文献回顾
张菁， 李午丽， 金洁， 孙成， 王璐， 赵春晖 - 中国医药导报, 2022 - yiyaodaobao.com.cn
牛牙症是0 种罕见的牙齿解剖形态异常! 临床特征为牙髓腔增大! 根分叉向根方移位, 牙根短小+
该病可以单独发生! 也可以伴发其他牙齿发育异常! 也可以作为综合征的伴发症状+ …
该病可以单独发生! 也可以伴发其他牙齿发育异常! 也可以作为综合征的伴发症状+ …
Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case …
G Li, Y Mu, C Sun, J Zheng, X Xu, X Yan, F Zhang… - 2020 - researchsquare.com
Background Cohen syndrome is a multisystem autosomal recessive hereditary disease,
which is caused by variants of the VPS13B gene. The clinical manifestations include …
which is caused by variants of the VPS13B gene. The clinical manifestations include …