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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
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
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https://hal-amu.archives-ouvertes.fr/hal-03147686
Contributor : valérie delague Connect in order to contact the contributor
Submitted on : Saturday, February 20, 2021 - 3:49:25 PM
Last modification on : Wednesday, November 3, 2021 - 7:28:01 AM

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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⟩

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