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

Pratibha Nair; Maher Lama; Stephany El-Hayek; Gretta Abou Sleymane; Samantha Stora; Marc Obeid; Mahmoud Al-Ali; Valérie Delague; André Mégarbané

doi:10.1159/000494465

Journal articles

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

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Life Sciences [q-bio] / Genetics

Life Sciences [q-bio] / Human health and pathology

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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

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

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

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