TY  - GEN
AU  - Elsayed,Liena E O
AU  - Mohammed,Inaam N
AU  - Hamed,Ahlam A A
AU  - Elseed,Maha A
AU  - Salih,Mustafa A M
AU  - Yahia,Ashraf
AU  - Siddig,Rayan A
AU  - Amin,Mutaz
AU  - Koko,Mahmoud
AU  - Elbashir,Mustafa I
AU  - Ibrahim,Muntaser E
AU  - Brice,Alexis
AU  - Ahmed,Ammar E
AU  - Stevanin,Giovanni
TI  - Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
SN  - 1471-2350
PY  - 2019///0225
KW  - Child, Preschool
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Group VI Phospholipases A2
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Neuroaxonal Dystrophies
KW  - RNA Splice Sites
KW  - Siblings
KW  - Sudan
KW  - Exome Sequencing
KW  - methods
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/s12881-018-0592-y
ER  -