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Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L. Dumeige L, et al. Among authors: martinerie l. Eur J Endocrinol. 2018 Sep;179(3):181-190. doi: 10.1530/EJE-18-0309. Epub 2018 Jul 4. Eur J Endocrinol. 2018. PMID: 29973376 Free article.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: martinerie l. Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478779 Free PMC article.
73 results