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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Report
Acesso em linha: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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