TY  - GEN
AU  - Tüysüz,Beyhan
AU  - Goldin,Ehud
AU  - Metin,Bariş
AU  - Korkmaz,Bariş
AU  - Yalçinkaya,Cengiz
TI  - Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
SN  - 1872-7131
PY  - 2009///1012
KW  - Child
KW  - Corpus Callosum
KW  - pathology
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Internal Capsule
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Micrognathism
KW  - Mucolipidoses
KW  - diagnosis
KW  - Phenotype
KW  - Point Mutation
KW  - genetics
KW  - TRPM Cation Channels
KW  - Transient Receptor Potential Channels
KW  - Turkey
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.braindev.2008.10.001
ER  -