De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P; DOOFNL Consortium; Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H.
Smits JJ, et al.
Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8.
Hum Genet. 2019.
PMID: 30535804
Free PMC article.
Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high-frequency hearing impairment. Up to now ATP2B2 has only been reported as a modifier, or in a digenic mechanism wit …
Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high …