טוען...
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...
שמור ב:
| הוצא לאור ב: | Case Rep Womens Health |
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| Main Authors: | , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier
2018
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| נושאים: | |
| גישה מקוונת: | 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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