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8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp
BACKGROUND: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. RESULTS: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, i...
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| Published in: | Mol Cytogenet |
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| Main Authors: | , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2014
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4268894/ https://ncbi.nlm.nih.gov/pubmed/25520754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0094-3 |
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