A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Loss-of-function variants in AP3D1 have been linked to Hermansky–Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnormalities, fatal in early childhood. Here, we report...

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Detalles Bibliográficos
Autores principales: Frohne, Alexandra, Koenighofer, Martin, Cetin, Hakan, Nieratschker, Michael, Liu, David T., Laccone, Franco, Neesen, Juergen, Nemec, Stefan F., Schwarz-Nemec, Ursula, Schoefer, Christian, Avraham, Karen B., Frei, Klemens, Grabmeier-Pfistershammer, Katharina, Kratzer, Bernhard, Schmetterer, Klaus, Pickl, Winfried F., Parzefall, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449960/
https://www.ncbi.nlm.nih.gov/pubmed/36445457
http://dx.doi.org/10.1007/s00439-022-02506-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449960/
https://www.ncbi.nlm.nih.gov/pubmed/36445457
http://dx.doi.org/10.1007/s00439-022-02506-0

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