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Cools MartineDawson, A. Mowat DavidSmith, G. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. Jamalthi Diem Chi, N. GorjanaOhnesorg, T.

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Sequencing revealed 93 previously unreported DSD gene variants. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. Our targeted gene panel compares favorably with other sequencing platforms. Eggers StefanieSadedin, S.

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