COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? - Aix-Marseille Université Access content directly
Journal Articles Molecular Syndromology Year : 2018

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

Dates and versions

hal-03147686 , version 1 (20-02-2021)

Identifiers

Cite

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⟩
39 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More