Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. [electronic resource]
- American journal of human genetics Feb 2009
- 266-73 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2009.01.009 doi
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