@dpavot:29307790
|
The aCGH analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing revealed pathogenic variants in genes associated with intellectual disability (HUWE1, GRIN1), including a gene coding for mandibulofacial dysostosis with microcephaly (EFTUD2).
|
projects
| Unselected (1) / annnotation (5) | Selected (0) / annnotation (0) | |
|
|
|
|