Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency  

Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency

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作  者:Wen Ji Lu-Yao Zhang Fu-Cheng Li Yu Wang Wei He Qi-Qi Yin Zhi-Hong Liao 

机构地区:[1]Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China [2]Department of Medical Genetics, Genome Research Center, Zhongshan School of Medicine, Sun Yabsen University, Guangzhou, 510080, China.

出  处:《Asian Journal of Andrology》2017年第3期386-387,共2页亚洲男性学杂志(英文版)

摘  要:Dear Editor, Kallmann syndrome (KS) is a phenotypically and genetically heterogeneous disorder featured by hypogonadotropic hypogonadism and congenital hyposmia or anosmia, accompanined with renal dysplasia, hearing loss, and craniofacial defects sometimes. More than 20 genes have been identified causing KS either alone or in combination.Dear Editor, Kallmann syndrome (KS) is a phenotypically and genetically heterogeneous disorder featured by hypogonadotropic hypogonadism and congenital hyposmia or anosmia, accompanined with renal dysplasia, hearing loss, and craniofacial defects sometimes. More than 20 genes have been identified causing KS either alone or in combination.

分 类 号:R[医药卫生]

 

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