Total: 1 |
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PMID (PMCID) | ||
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23776344 (3681123) |
OTHER | |
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). | ||
Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Appl Clin Genet. 2008;1:19-22. |
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We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay. |