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Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome
The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases of absent uterus and unilateral renal agenesis in...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2810967/ https://ncbi.nlm.nih.gov/pubmed/17676598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31736 |
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