DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

por Vona, B, Hofrichter, MAH, Neuner, C, Schröder, J, Gehrig, A, Hennermann, JB, Kraus, F, Shehata-Dieler, W, Klopocki, E, Nanda, I, Haaf, T
Publicado 2015

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

por Vona, B., Schwartzbaum, D.A., Rodriguez, A.A., Lewis, S.S., Toosi, M.B., Radhakrishnan, P., Bozan, N., Akın, R., Doosti, M., Manju, R., Duman, D., Sineni, C.J., Nampoothiri, S., Karimiani, E.G., Houlden, H., Bademci, G., Tekin, M., Girisha, K.M., Maroofian, R., Douzgou, S.
Publicado 2022