ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew–Wood syndrome and anophthalmia/microphthalmia (A/M),...

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Detalhes bibliográficos
Main Authors: Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., Slavotinek, Anne M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3723310/
https://ncbi.nlm.nih.gov/pubmed/23591992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt179
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