Kallmann syndrome with a Tyr113His PROKR2 mutation

RATIONAL: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS: A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia....

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Medicine (Baltimore)
Prif Awduron: Ha, Jeong-Ha, Lee, Sara, Kim, Youngmoon, Moon, Ji In, Seo, Jongkwon, Jang, Ja-Hyun, Cho, Eun-Hae, Kim, Jung Min, Rhee, Byoung Doo, Ko, Kyung Soo, Yoo, Soo Jin, Won, Jong Chul
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer Health 2017
Pynciau:
3500
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585527/
https://ncbi.nlm.nih.gov/pubmed/28858133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000007974
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