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

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-Shamsi, Lina Basel-Salmon, Achiya Z. Amir, Lariza M. RentoJiin Ying Lim, Indra Ganesan, Shirlee Shril, Gilad Evrony, A. James Barkovich, Peter Bauer, Friedhelm Hildebrandt, Min Dong, Guntram Borck, Christian Beetz, Lihadh Al-Gazali, Wafaa Eyaid, Christopher A. Walsh

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13 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

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