Clinical Auditory Phenotypes Associated with <i>GATA3</i> Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

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第一作者： Li,Wang

第一单位： Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853; Department of Clinical Medicine, School of Medicine, Nankai University, Tianjin 300071, China.

作者： Li,Wang ^[1] ; Qiong-Fen,Lin ^[2] ; Hong-Yang,Wang ^[3] ; Jing,Guan ^[3] ; Lan,Lan ^[3] ; Lin-Yi,Xie ^[3] ; Lan,Yu ^[3] ; Ju,Yang ^[3] ; Cui,Zhao ^[3] ; Jin-Long,Liang ^[2] ; Han-Lin,Zhou ^[2] ; Huan-Ming,Yang ^[4] ; Wen-Ping,Xiong ^[3] ; Qiu-Jing,Zhang ^[3] ; Da-Yong,Wang ^[3] ; Qiu-Ju,Wang ^[3]

作者单位： Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853; Department of Clinical Medicine, School of Medicine, Nankai University, Tianjin 300071, China. ^[1] Beijing Genomics Institute, Shenzhen, Guangdong 518083, China. ^[2] Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China. ^[3] Beijing Genomics Institute, Shenzhen, Guangdong 518083; James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang 310058, China. ^[4]

主题词儿童(Child);女(雌)性(Female);GATA3转录因子(GATA3 Transcription Factor);基因型(Genotype);听觉丧失(Hearing Loss);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);甲状旁腺功能减退症(Hypoparathyroidism);男(雄)性(Male);突变(Mutation);肾病(Nephrosis);系谱(Pedigree)

DOI 10.4103/0366-6999.201600

PMID 28303854

发布时间 2018-11-13

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Chinese medical journal

2017年130卷6期

703-709页

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Clinical Auditory Phenotypes Associated with <i>GATA3</i> Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Chinese medical journal

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Chinese medical journal

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Clinical Auditory Phenotypes Associated with <i>GATA3</i> Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Chinese medical journal

相似文献

Chinese medical journal

相关期刊

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