TY  - GEN
AU  - Polok,Bozena
AU  - Escher,Pascal
AU  - Ambresin,Aude
AU  - Chouery,Eliane
AU  - Bolay,Sylvain
AU  - Meunier,Isabelle
AU  - Nan,Francis
AU  - Hamel,Christian
AU  - Munier,Francis L
AU  - Thilo,Bernard
AU  - Mégarbané,André
AU  - Schorderet,Daniel F
TI  - Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
SN  - 1537-6605
PY  - 2009///0323
KW  - Amelogenesis Imperfecta
KW  - genetics
KW  - Cation Transport Proteins
KW  - Female
KW  - Gene Duplication
KW  - Genes, Recessive
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Retinal Cone Photoreceptor Cells
KW  - pathology
KW  - Retinal Rod Photoreceptor Cells
KW  - Retinitis Pigmentosa
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2009.01.006
ER  -