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De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation
Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clinical signs. Most cases involve the coexistence of u...
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| Publié dans: | J Pediatr Genet |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Georg Thieme Verlag KG
2020
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| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6976321/ https://ncbi.nlm.nih.gov/pubmed/31976141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694703 |
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