Resumen
© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.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.
Idioma original | Inglés estadounidense |
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Páginas (desde-hasta) | e1-e3 |
Publicación | Clinical Genetics |
Volumen | 88 |
N.º | 4 |
DOI | |
Estado | Publicada - oct. 1 2015 |