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Novel RDH12 sequence variations in Leber congenital amaurosis.
J AAPOS. 2010 Aug;14(4):349-51. doi: 10.1016/j.jaapos.2010.04.010.
J AAPOS. 2010.
PMID: 20736127
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E.
Coppieters F, et al.
Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.
Genet Med. 2014.
PMID: 24625443
Free article.
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Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
Xu K, et al.
Br J Ophthalmol. 2020 Jul;104(7):932-937. doi: 10.1136/bjophthalmol-2019-314281. Epub 2019 Oct 19.
Br J Ophthalmol. 2020.
PMID: 31630094
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