A new familial case of Jalili syndrome caused by a novel mutation in CNNM4. [electronic resource]
Producer: 20171113Description: 161-166 p. digitalISSN:- 1744-5094
- Adolescent
- Amelogenesis Imperfecta -- diagnosis
- Cation Transport Proteins -- genetics
- Child
- Cone-Rod Dystrophies
- Consanguinity
- Electroretinography
- Exons -- genetics
- Female
- Homozygote
- Humans
- Mutation, Missense
- Pedigree
- Polymerase Chain Reaction
- Retinitis Pigmentosa -- diagnosis
- Siblings
- Visual Acuity -- physiology
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Publication Type: Case Reports; Journal Article
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