Parry, David A

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