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A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.
Quintela I, Fernandez-Prieto M, Gomez-Guerrero L, Resches M, Eiris J, Barros F, Carracedo A. Quintela I, et al. Among authors: barros f. Clin Case Rep. 2015 Jun;3(6):415-23. doi: 10.1002/ccr3.255. Epub 2015 Apr 9. Clin Case Rep. 2015. PMID: 26185640 Free PMC article.
Minisequencing mitochondrial DNA pathogenic mutations.
Alvarez-Iglesias V, Barros F, Carracedo A, Salas A. Alvarez-Iglesias V, et al. Among authors: barros f. BMC Med Genet. 2008 Apr 10;9:26. doi: 10.1186/1471-2350-9-26. BMC Med Genet. 2008. PMID: 18402672 Free PMC article.
1,200 results