EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201383.pdf
Reference61 articles.
1. Guilford P, Ben Arab S, Blanchard S et al: A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994; 6: 24–28.
2. Zelante L, Gasparini P, Estivill X et al: Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605–1609.
3. Kelsell DP, Dunlop J, Stevens HP et al: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80–83.
4. Pagarkar W, Bitner-Glindzicz M, Knight J, Sirimanna T : Late postnatal onset of hearing loss due to GJB2 mutations. Int J Pediatr Otorhinolaryngol 2006; 70: 1119–1124.
5. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A : Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 2006; 27: 732–741.
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