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Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype
There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a distinct phenotype almost like Prader-Willi syndrome. Here we report a patient with a similar deletion but a strikingly different phenotype, one...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3776401/ https://ncbi.nlm.nih.gov/pubmed/24167463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000354038 |
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