ATP6V1B2

Publications

Feinmesser M et al. Congenital deafness associated with onychodystrophy. Arch Otolaryngol. 1961;74:507-8.  PMID:13892065.

Goodman RM et al. Hereditary congenital deafness with onychodystrophy. Arch  Otolaryngol. 1969;90(4):474-7.  PMID:5806072..

Moghadam H et al. Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations. Can Med Assoc J. 1972;107(4):310-2.  PMID:5056117.

Kondoh T et al. Autosomal dominant onychodystrophy and congenital sensorineural deafness. J Hum Genet. 1999;44(1):60-2.  PMID:9929981.

White SM et al. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. Am J Med Genet A. 2011;155A(10):2512-5.  PMID:21998865.

Vind-Kezunovic D et al. A Danish family with dominant deafness-onychodystrophy syndrome. J Dermatol Case Rep. 2013;7(4):125-8.  PMID:24421866.

Yuan Y et alDe novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Research. 2014;24(6):1370–3.  PMID:24913193.

Menendez I et al. Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. Clin Case Rep. 2017;5(4):376-9.  PMID:28396750.