A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T.
Frohne A, et al. Among authors: nieratschker m.
Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29.
Hum Genet. 2023.
PMID: 36445457
Free PMC article.