A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea von Hassan, H.A., Mazen, I., Gad, Y.Z., Ali, O.S.M., Mekkawy, M., Essawi, M.L.

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Unique Karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian Patient with Ovotesticular Disorder of Sexual Development von Mazen, I.M., Kamel, A.K., Mohamed, A.M., Hussien, H.A., Essawi, M.L., Hassan, H.A., El-Ruby, M.O., Aref, A., Mekkawy, M.K.

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Supplementary Material for: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency von Hassan, H.A., Mazen, I., Gad, Y.Z., O.S.M., Ali, Mekkawy, M., Essawi, M.L.

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