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Ophthalmological evaluation and integrated intervention in a family with congenital aniridia in Alagoas, Brazil

Santos, Mario Jorge; Alves, Milton Ruiz; Souza, Carlos Dornels Freire de; Coronado, Bruno Nobre Lins; Souza, Janaina Christina Norberto de.
Rev. bras. oftalmol; 79 (6), 2020
Abstract Objective: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with CA in Northeastern Brazil. Methods: This was a cross-sectional study involving 31 individuals (56 eyes) from the same family presenting CA phenotypes. The study populatio...
Aniridia/diagnóstico, Brasil, Pronóstico, Familia, Fenotipo, Estudios Transversales, Factor de Transcripción PAX6, Estudio Observacional
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Expression of Pax6 and Pax7 proteins during the central nervous system development in human embryos

Namm, Aimar; Arend, Andres; Suutre, Siim; Aunapuu, Marina.
Int. j. morphol; 38 (2), 2020
The family of paired box (Pax) genes encodes the transcription factors that have been emphasized for the particular importance to embryonic development of the CNS, with the evidence obtained from various animal models. Human embryos have rarely been available for the detection of the expression of Pax fa...
Factor de Transcripción PAX6/metabolismo, Factor de Transcripción PAX7/metabolismo, Desarrollo Embrionario, Encéfalo/crecimiento & desarrollo, Encéfalo/embriología, Médula Espinal/metabolismo, Médula Espinal/embriología, Inmunohistoquímica
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