Deafness, X-linked
Definition:
References:
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[1]. Guangqian Xing, et al. GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. J Med Genet. 2017 Jun;54(6):426-430. [Content Brief]
[2]. Hee Keun Lee, et al. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 2009 Nov 6;39(3):195-201. [Content Brief]
[3]. Liang Zong, et al. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. J Med Genet. 2015 Aug;52(8):523-31. [Content Brief]
[4]. Nelly Abdelfatah, et al. A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Hum Mutat. 2013 Jan;34(1):66-9. [Content Brief]
[5]. Simone Rost, et al. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. Eur J Hum Genet. 2014 Feb;22(2):208-15. [Content Brief]
[6]. Xuezhong Liu, et al. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet. 2010 Jan;86(1):65-71. [Content Brief]