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Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. The increased understanding of the genetic basis of...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2013
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3880228/ https://ncbi.nlm.nih.gov/pubmed/24038889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22430 |
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