K08 HD053476-01A1/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

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

Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. Yahyavi M, et al. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591992 Free PMC article.

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

West B, Bove KE, Slavotinek AM. West B, et al. Am J Med Genet A. 2009 Mar;149A(3):539-42. doi: 10.1002/ajmg.a.32682. Am J Med Genet A. 2009. PMID: 19213032 Free PMC article. No abstract available.

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