title: Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency.
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Ji
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Lu-Yao
authors.initials: LY
authors.lastname: Zhang
authors.affiliation: Department of Medical Genetics, Genome Research Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Fu-Cheng
authors.initials: FC
authors.lastname: Li
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Wei
authors.initials: W
authors.lastname: He
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Qi-Qi
authors.initials: QQ
authors.lastname: Yin
authors.affiliation: Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Zhi-Hong
authors.initials: ZH
authors.lastname: Liao
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D058490:Disorder of Sex Development, 46,XY / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D017436:Kallmann Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D043202:Steroid Metabolism, Inborn Errors / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D000073336:Whole Genome Sequencing
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase