Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias
Barbara Leitao Braga, Nathália Lisboa Gomes, Mirian Yumie Nishi, Bruna Lucheze Freire, Rafael Loch Batista, Antônio Marcondes Lerário, Mariana F.A. Funari, Elaine Maria Frade Costa, Sorahia Domenice, José Antônio Diniz Faria, Alexander A.L. Jorge, Berenice Bilharinho Mendonca
The paper investigates genetic variants in DSD-related genes in SGA children with hypospadias and finds no pathogenic variants in non-syndromic cases.
bioRxiv · Aug 28, 2019 · PreprintGenetics