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pro vyhledávání: '"F. J. Hernandez Ramón"'
Autor:
E. Guillén Navarro, I. Lopez Expósito, M. C. Martinez Romero, R. Domingo Jiménez, C. Mendez Velasco, J. Gabarrón Llamas, F. J. Hernandez Ramón
Publikováno v:
American Journal of Medical Genetics. 62:297-299
We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of