A novel variant in MED12 gene: Further delineation of phenotype

We describe a 5‐year‐old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing. His dysmorphic facial features are distinct from the previously described phenotypes. With a strong genotype–phenotype correlation that is already known for MED12, this could be a new phenotype linked to MED12, thus expanding the phenotypic spectrum of MED12‐related disorders.

Source: American Journal of Medical Genetics Part A - May 1, 2017 Category: Genetics & Stem Cells Authors: Dhanya L. Narayanan, Shubha R. Phadke Tags: CLINICAL REPORT Source Type: research