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Sasaki,              G, Nakagawa,                K,                Hashiguchi,              A, Hasegawa,                T, Ogata,                T, Murai,                M. Giant            seminoma in a patient with 5 alpha-reductase type 2 deficiency.            J Urol          2003;169: 1080\u20131.","DOI":"10.1097\/01.ju.0000047621.66463.29"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Gui,              B, Song,                Y, Su,                Z, Luo,                FH, Chen,                L, Wang,                X, et al.            New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre            study: regional distribution and genotype-phenotype profiling of <i>SRD5A2<\/i>            in 190 Chinese patients. J Med Genet          2019;56: 685\u201392.","DOI":"10.1136\/jmedgenet-2018-105915"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Veldman,              A, Kiewiet,                MBG,                Heiner-Fokkema,              MR, Nelen,                MR, Sinke,                RJ,                Sikkema-Raddatz,              B, et al.            Towards next-generation sequencing (NGS)-based newborn screening: A            technical study to prepare for the challenges ahead. Int J            Neonatal Screen          2022;8: 17.","DOI":"10.3390\/ijns8010017"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Strand,              J, Gul,                KA,                Erichsen,              HC, Lundman,                E, Berge,                MC,                Tr\u00f8mborg,              AK, et al.            Second-tier next generation sequencing integrated in nationwide newborn            screening provides rapid molecular diagnostics of severe combined            immunodeficiency. 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Li,                K, Peng,                YG, Yan,                RH, Song,                WQ, Peng,                XX, Ni,                X.            Age-dependent changes of total and differential white blood cell counts            in children. Chin Med J (Engl)          2020;133: 1900\u20137.","DOI":"10.1097\/CM9.0000000000000854"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Shestak,                AG,              Bukaeva, AA,                Saber, S,                Zaklyazminskaya,              EV. Allelic            dropout is a common phenomenon that reduces the diagnostic yield of PCR-based sequencing            of targeted gene panels. Front Genet          2021;12: 620337.","DOI":"10.3389\/fgene.2021.620337"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Radpour,              R, Rezaee,                M,              Tavasoly, A,                Solati, S,                Saleki,            A. 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