{Reference Type}: Case Reports
{Title}: Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
{Author}: Yalcintepe S;Gurkan H;
{Journal}: Clin Dysmorphol
{Volume}: 30
{Issue}: 1
{Year}: Jan 2021
{Factor}: 0.884
{DOI}: 10.1097/MCD.0000000000000358
{Abstract}: Pathogenic variations in the SLC9A6 gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the SLC9A6 gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant.