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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 108"
Page 1
Familial Mondini dysplasia.
Griffith AJ, Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S. Griffith AJ, et al. Laryngoscope. 1998 Sep;108(9):1368-73. doi: 10.1097/00005537-199809000-00021. Laryngoscope. 1998. PMID: 9738759
The mother and an unaffected brother have audiologic findings suggestive of heterozygous carrier status for a recessive hearing loss gene. CONCLUSIONS: Pedigree analysis indicates autosomal recessive inheritance in this family. The observed …
The mother and an unaffected brother have audiologic findings suggestive of heterozygous carrier status for a recessive hearing …
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S, Xu G, Zhao Z, Du J, Shen B, Li C. Chen S, et al. BMC Med Genomics. 2024 Apr 26;17(1):108. doi: 10.1186/s12920-024-01878-8. BMC Med Genomics. 2024. PMID: 38671472 Free PMC article.
BACKGROUND: Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3-5 chains of type IV collagen in the glo …
BACKGROUND: Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss …
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Janecke AR, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G. Janecke AR, et al. Hum Genet. 2001 Mar;108(3):269-70. doi: 10.1007/s004390100484. Hum Genet. 2001. PMID: 11354642
Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hearing impairment and keratoderma. ...This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive …
Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hea …
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). ...In the Cuban family, we detected two d …
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing lo …