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A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could...
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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: |
Springer-Verlag
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2757600/ https://ncbi.nlm.nih.gov/pubmed/17932688 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-007-0616-7 |
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