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An Interstitial 15q11-q14 Deletion: Expanded Prader-Willi Syndrome Phenotype
We present an infant girl with a de novo interstitial deletion of the chromosome 15q11-q14 region, larger than the typical deletion seen in Prader-Willi syndrome (PWS). She presented with features seen in PWS including hypotonia, a poor suck, feeding problems and mild micrognathia. She also presente...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2814996/ https://ncbi.nlm.nih.gov/pubmed/20082457 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33197 |
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