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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....
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585527/ https://www.ncbi.nlm.nih.gov/pubmed/28858133 http://dx.doi.org/10.1097/MD.0000000000007974 |
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