Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

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 ge...

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Detalles Bibliográficos
Autores principales: 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, Wang, Qiu-Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358421/
https://www.ncbi.nlm.nih.gov/pubmed/28303854
http://dx.doi.org/10.4103/0366-6999.201600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358421/
https://www.ncbi.nlm.nih.gov/pubmed/28303854
http://dx.doi.org/10.4103/0366-6999.201600

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