Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-dea...
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
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Author / Creator
Wang, Li , Lin, Qiong-Fen , Wang, Hong-Yang , Guan, Jing , Lan, Lan , Xie, Lin-Yi , Yu, Lan , Yang, Ju , Zhao, Cui , Liang, Jin-Long , Zhou, Han-Lin , Yang, Huan-Ming , Xiong, Wen-Ping , Zhang, Qiu-Jing , Wang, Da-Yong and Wang, Qiu-Ju
Publisher
China: Medknow Publications and Media Pvt. Ltd
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Language
English
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Publisher
China: Medknow Publications and Media Pvt. Ltd
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Contents
Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese t;amily...
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Full title
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_48e28e7b2a1e4d7a982d4b8f3a59883c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_48e28e7b2a1e4d7a982d4b8f3a59883c
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ISSN
0366-6999
E-ISSN
2542-5641
DOI
10.4103/0366-6999.201600
