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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine patients, including six probands; two with de novo deletions, two who inherited the deletion from an affected parent, and two with unknown inheritance. The...
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| Главные авторы: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2008
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2365467/ https://ncbi.nlm.nih.gov/pubmed/18278044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.93 |
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