TY  - GEN
AU  - Noor,Abdul
AU  - Windpassinger,Christian
AU  - Patel,Megha
AU  - Stachowiak,Beata
AU  - Mikhailov,Anna
AU  - Azam,Matloob
AU  - Irfan,Muhammad
AU  - Siddiqui,Zahid Kamal
AU  - Naeem,Farooq
AU  - Paterson,Andrew D
AU  - Lutfullah,Muhammad
AU  - Vincent,John B
AU  - Ayub,Muhammad
TI  - CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
SN  - 1537-6605
PY  - 2008///0513
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Animals
KW  - Calcium
KW  - metabolism
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 4
KW  - genetics
KW  - Consanguinity
KW  - Cytoskeletal Proteins
KW  - Exons
KW  - Female
KW  - Frameshift Mutation
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Lod Score
KW  - Male
KW  - Molecular Sequence Data
KW  - Oligonucleotide Array Sequence Analysis
KW  - Pakistan
KW  - Pedigree
KW  - Protein Structure, Tertiary
KW  - Proteins
KW  - RNA Splicing
KW  - Retinitis Pigmentosa
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2008.01.021
ER  -