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A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
BACKGROUND: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particul...
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| Päätekijät: | , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3923007/ https://ncbi.nlm.nih.gov/pubmed/24517234 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-21 |
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