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Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up
BACKGROUND: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2. RESULTS: We revisite...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4188067/ https://ncbi.nlm.nih.gov/pubmed/25295072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-52 |
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