Učitavanje...
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick l...
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| Glavni autori: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2009
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2985958/ https://ncbi.nlm.nih.gov/pubmed/18781183 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.159 |
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