Article
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
The Journal of clinical endocrinology and metabolism - 19 Apr 2022
Gomes Nathalia Lisboa, Batista Rafael Loch, Nishi Mirian Y, Lerário Antônio Marcondes, Silva Thatiana E, de Moraes Narcizo Amanda, Benedetti Anna Flávia Figueredo, de Assis Funari Mariana Ferreira, Faria Junior José Antônio, Moraes Daniela Rodrigues, Quintão Lia Mesquita Lousada, Montenegro Luciana Ribeiro, Ferrari Maria Teresa Martins, Jorge Alexander A, Arnhold Ivo J P, Costa Elaine Maria Frade, Domenice Sorahia, Mendonca Berenice Bilharinho
Abstract excerpt
CONTEXT: Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with clinical/biochemical data for diagnosing 46,XY differences of sex development (DSD). OBJECTIVE: To analyze the contribution of phenotypic classification either alone or in...
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