MOLECULAR BASIS FOR AN OVERGROWTH SYNDROME: CANDIDATE GENE FOR THE SIMPSON-GOLABI-BEHMEL SYNDROME AND ITS MECHANISM OF ACTION

Pubblicazioni Scientifiche

• 1997 GENOMICS

  Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene

• 1998 GENE

  Recombination trapping: an in-vivo approach to recover cDNAs encoded in YACs

• 1998 DEVELOPMENTAL DYNAMICS

  Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome

• 1997 JOURNAL OF MEDICAL GENETICS

  Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome

• 2001 NATURE GENETICS

  The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome