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Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.
Children (Basel). 2023 Sep 28;10(10):1614. doi: 10.3390/children10101614.
Children (Basel). 2023.
PMID: 37892277
Free PMC article.
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME, Hernández-Martínez NL, Alcántara-Ortigoza MA, Ayala-Sumuano JT, Enríquez-Flores S, Velázquez-Aragón JA, Varela-Echavarría A, Todd-Quiñones CG, González-Del Angel A.
Reyna-Fabián ME, et al. Among authors: todd quinones cg.
Sci Rep. 2020 Apr 20;10(1):6589. doi: 10.1038/s41598-020-62759-5.
Sci Rep. 2020.
PMID: 32313033
Free PMC article.
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Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Monroy S, Martínez-Cruz V, Todd-Quiñones C, González-del Angel A.
Velázquez-Aragón J, et al.
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S333-7. doi: 10.1007/s10545-008-0905-y. Epub 2008 Oct 29.
J Inherit Metab Dis. 2008.
PMID: 18956253
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