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Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
Engeli RT, Tsachaki M, Hassan HA, Sager CP, Essawi ML, Gad YZ, Kamel AK, Mazen I, Odermatt A. Engeli RT, et al. Among authors: hassan ha. J Sex Med. 2017 Sep;14(9):1165-1174. doi: 10.1016/j.jsxm.2017.07.006. J Sex Med. 2017. PMID: 28859874
CONCLUSION: The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY DSD, is a polymorphism that does not cause the disorder; thus, further sequence analysis was required and disclosed a mutation in SRD5A2, explaining the cause of 46,XY DSD in these pa …
CONCLUSION: The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY DSD, is a polymorphism that does not cause …
296 results