A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. [electronic resource]
Producer: 20190311Description: 299-303 p. digitalISSN:- 1590-3478
- Brain Edema -- genetics
- Child, Preschool
- Codon, Nonsense
- Consanguinity
- Family
- Female
- Genetic Predisposition to Disease
- Humans
- Infant
- Male
- Microfilament Proteins -- genetics
- Neurodegenerative Diseases -- genetics
- Optic Atrophy -- genetics
- Saudi Arabia
- Spasms, Infantile -- genetics
- Vesicular Transport Proteins -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.