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An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.
Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E. Campos AE, et al. Among authors: franca m. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602959 Free PMC article.
CLINICAL AND HISTOPATHOLOGICAL FINDINGS IN JALILI SYNDROME.
Franca M, Providência J, Castela G, Patrício D, Sousa IS, Ambrósio AF, Alves CH, Marques JP. Franca M, et al. Ophthalmol Retina. 2024 Nov 8:S2468-6530(24)00531-1. doi: 10.1016/j.oret.2024.11.002. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39522753
650 results