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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...
Autores principales: | Hovnik, Tinka, Zitnik, Eva, Avbelj Stefanija, Magdalena, Bertok, Sara, Sedej, Katarina, Bancic Silva, Vesna, Battelino, Tadej, Groselj, Urh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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