Total: 1 |
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PMID (PMCID) | ||
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22407779 |
MALE | Infant, Newborn |
Neonatal detection of 5p13.2 duplication and delineation of the phenotype. | ||
Carrascosa Romero MC, Garcia Hoyo R, Calvente M, Baquero Cano M, Gonzalez Castillo L, Suela J. Am J Med Genet A. 2012;158A(4):877-81. |
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A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. |