A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-021-01097-xA recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Source: Genetics in Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Diane D. Shao Rachel Straussberg Hind Ahmed Amjad Khan Songhai Tian R. Sean Hill Richard S. Smith Amar J. Majmundar Najim Ameziane Jennifer E. Neil Edward Yang Amal Al Tenaiji Saumya S. Jamuar Thorsten M. Schlaeger Muna Al-Saffar Iris Hovel Aisha Al-Shams Source Type: research