A novel variant in C5ORF42 gene is associated with Joubert syndrome. [electronic resource]
Producer: 20210216Description: 4099-4103 p. digitalISSN:- 1573-4978
- Abnormalities, Multiple -- genetics
- Adult
- Brain -- physiology
- Cerebellum -- abnormalities
- Child, Preschool
- Eye Abnormalities -- genetics
- Female
- Heterozygote
- Humans
- Infant
- Kidney Diseases, Cystic -- genetics
- Male
- Membrane Proteins -- genetics
- Middle Aged
- Mutation
- Pedigree
- Retina -- abnormalities
- Exome Sequencing -- methods
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Publication Type: Case Reports; Journal Article
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