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