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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis s...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734829/ https://ncbi.nlm.nih.gov/pubmed/11238681 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.3.151 |
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