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Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Among authors: perez ab. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.
Duplication 9p and their implication to phenotype.
Guilherme RS, Meloni VA, Perez AB, Pilla AL, de Ramos MA, Dantas AG, Takeno SS, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: perez ab. BMC Med Genet. 2014 Dec 20;15:142. doi: 10.1186/s12881-014-0142-1. BMC Med Genet. 2014. PMID: 25526829 Free PMC article.
140 results