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An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature

Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonadism, and the absence of spermatogenesis. Most pati...

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Detalles Bibliográficos
Autores principales: Hovnik, Tinka, Zitnik, Eva, Avbelj Stefanija, Magdalena, Bertok, Sara, Sedej, Katarina, Bancic Silva, Vesna, Battelino, Tadej, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141365/
https://www.ncbi.nlm.nih.gov/pubmed/35627128
http://dx.doi.org/10.3390/genes13050744