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Phenotypic variations in X chromosome mutations: Two case reports
Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Patient 1 presented at age 17 with primary a...
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| Yayımlandı: | Case Rep Womens Health |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6305762/ https://ncbi.nlm.nih.gov/pubmed/30591909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.crwh.2018.e00084 |
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