تحميل...
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Nature Publishing Group
2009
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986272/ https://ncbi.nlm.nih.gov/pubmed/19034313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.220 |
| الوسوم: |
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