1.
Clin Genet
; 88(4): e1-3, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26138117
RESUMO
We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth.