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Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3.
Clin Endocrinol (Oxf). 2020.
PMID: 32289882
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L.
Simonetti L, et al. Among authors: benavides mori b.
Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6.
Hum Mutat. 2018.
PMID: 29035424
Review.
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Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
Avila-Fernandez A, et al. Among authors: benavides mori b.
Ophthalmology. 2012 Dec;119(12):2616-21. doi: 10.1016/j.ophtha.2012.06.033. Epub 2012 Aug 20.
Ophthalmology. 2012.
PMID: 22917891
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