טוען...
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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| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2009
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| נושאים: | |
| גישה מקוונת: | 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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