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pro vyhledávání: '"Juliana Matas"'
Autor:
María José Peña, Katrin Beyer, Eduardo López-Laso, Juliana Matas, María Elena Mateos, Juana Guzmán, Juan López Siles, Juan Luis Pérez-Navero
Publikováno v:
American Journal of Medical Genetics Part A. 161:1091-1095
Mutations in the gene encoding glypican (GPC) 3 appear to be responsible for most cases of Simpson-Golabi-Behmel syndrome type 1. Duplication of the GPC4 gene has also been associated to this syndrome; however, no duplications involving GPC3 have bee