Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Journal Article
Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report
Cavole, Thiago R., Perrone, Eduardo, Lucena de Castro, Felipe S. C., Alvarez Perez, Ana B., Waitzberg, Angela Flávia L., Cernach, Mirlene C. S. P.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report
Cavole, Thiago R, Perrone, Eduardo, Lucena de Castro, Felipe S C, Alvarez Perez, Ana B, Waitzberg, Angela Flávia L, Cernach, Mirlene C S P
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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