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

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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Xehetasun bibliografikoak
Egile Nagusiak: Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Wolters Kluwer 2017-01-01
Saila:Chinese Medical Journal
Gaiak:
GATA binding protein 3; Genetic Anticipation; Hypoparathyroidism-deafness-renal Dysplasia Syndrome
Sarrera elektronikoa:http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=6;spage=703;epage=709;aulast=Wang

Internet

http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=6;spage=703;epage=709;aulast=Wang

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