A novel mutation in ACTG1 can cause either isolated hearing loss or Baraitser-Winter syndrome

অনুযায়ী Kemerley, Andrew, Sloan-Heggen, Christina M, Pfeifer, Wanda L, Smith, Richard JH, Drack, Arlene V
প্রকাশিত Ophthalmic Genet (2016)

Is it Usher Syndrome? Collaborative Diagnosis and Molecular Genetics of Patients with Visual Impairment and Hearing Loss

অনুযায়ী Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamholz, John, Smith, Richard J.H., Drack, Arlene V.
প্রকাশিত Ophthalmic Genet (2020)