Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization,...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Am J Hum Genet
Glavni autori: Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2019
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849088/
https://ncbi.nlm.nih.gov/pubmed/31630788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.021
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items