| Literature DB >> 22407779 |
M Carmen Carrascosa Romero1, Rosa García Hoyo, María Calvente, María Baquero Cano, Llanos González Castillo, Javier Suela.
Abstract
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. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description.Entities:
Mesh：
Substances：
Year: 2012 PMID： 22407779 DOI： 10.1002/ajmg.a.35237
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802