Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. [electronic resource]
Producer: 20090323Description: 266-73 p. digitalISSN:- 1537-6605
- Amelogenesis Imperfecta -- genetics
- Arabs -- genetics
- Cation Transport Proteins -- genetics
- Consanguinity
- Female
- Humans
- Male
- Middle East
- Mutation
- Phenotype
- Polymorphism, Single Nucleotide
- Retinal Cone Photoreceptor Cells -- pathology
- Retinal Rod Photoreceptor Cells -- pathology
- Retinitis Pigmentosa -- genetics
- Syndrome
- Tooth Abnormalities -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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