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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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Bibliographische Detailangaben
Hauptverfasser: Kahrizi, Kimia, Najmabadi, Hossein, Kariminejad, Roxana, Jamali, Payman, Malekpour, Mahdi, Garshasbi, Masoud, Ropers, Hans Hilger, Kuss, Andreas Walter, Tzschach, Andreas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
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Online Zugang: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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