MOLECULAR BASIS FOR AN OVERGROWTH SYNDROME: CANDIDATE GENE FOR THE SIMPSON-GOLABI-BEHMEL SYNDROME AND ITS MECHANISM OF ACTION
- 2 Anni 1996/1998
- 82.633€ Totale Fondi
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Pubblicazioni Scientifiche
- DEVELOPMENTAL DYNAMICS
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome
- GENE
Recombination trapping: an in-vivo approach to recover cDNAs encoded in YACs
- 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
- JOURNAL OF MEDICAL GENETICS
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome
- NATURE GENETICS
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
