Elliot H. Choi

Congenital microcephaly and bilateral chorioretinal atrophy associated with a KIF11 nonsense variant.

Purpose: Microcephaly and chorioretinal atrophy are recognized clinical features associated with variants in kinesin family member 11 (KIF11), yet the phenotypic spectrum continues to expand as additional pathogenic variants are identified. We report a 17-year-old male with a history of microcephaly who presented for e...