TY  - GEN
AU  - Parry,David A
AU  - Mighell,Alan J
AU  - El-Sayed,Walid
AU  - Shore,Roger C
AU  - Jalili,Ismail K
AU  - Dollfus,Hélène
AU  - Bloch-Zupan,Agnes
AU  - Carlos,Roman
AU  - Carr,Ian M
AU  - Downey,Louise M
AU  - Blain,Katharine M
AU  - Mansfield,David C
AU  - Shahrabi,Mehdi
AU  - Heidari,Mansour
AU  - Aref,Parissa
AU  - Abbasi,Mohsen
AU  - Michaelides,Michel
AU  - Moore,Anthony T
AU  - Kirkham,Jennifer
AU  - Inglehearn,Chris F
TI  - Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
SN  - 1537-6605
PY  - 2009///0323
KW  - Amelogenesis Imperfecta
KW  - genetics
KW  - Arabs
KW  - Cation Transport Proteins
KW  - Consanguinity
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle East
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Retinal Cone Photoreceptor Cells
KW  - pathology
KW  - Retinal Rod Photoreceptor Cells
KW  - Retinitis Pigmentosa
KW  - Syndrome
KW  - Tooth Abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2009.01.009
ER  -