In a 30-year-old woman and her 2-year-old son, both of whom had classic cutis laxa (123700), Zhang et al. (1999) identified heterozygosity for a deletion of 2039C from exon 30 of the ELN gene. The same exon was the site of the mutation in the 2012delG deletion (130160.0008).
GBM: Glioblastoma Multiforme: GBM: Glomerular Basement Membrane: GBM: Game Boy Micro (game console) GBM: Green Belt Movement: GBM: Global Banking and Markets: GBM: Gulf Business Machines (est. 1990) GBM: Gay Black Male: GBM: Grand Bend Motorplex: GBM: Ginger Bread Man: GBM: Global Business Model: GBM: Green Bay Metro (Wisconsin) GBM: Gaussian Beam Model: GBM: Global Battle Manager: GBM
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