COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Pratibha Nair (1) , Maher Lama (2) , Stephany El-Hayek (1) , Gretta Abou Sleymane (3) , Samantha Stora (4) , Marc Obeid (3) , Mahmoud Al-Ali (1) , Valérie Delague (5) , André Mégarbané (4)

1 CAGS - Center for arab genomic studies
2 Pediatric Department, El Rassoul Hospital
3 Department of Laboratory Science and Technology
4 Institut Jérôme Lejeune
5 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Domaines: Sciences du Vivant [q-bio]; Génétique; Médecine humaine et pathologie

Pratibha Nair, Maher Lama, Stephany El-Hayek, Gretta Abou Sleymane, Samantha Stora, et al.. COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?. Molecular Syndromology, 2018, 9 (6), pp.319-323. ⟨10.1159/000494465⟩. ⟨hal-03147686⟩