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,...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: 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
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Report
Online adgang: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
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