TY  - GEN
AU  - Schmelzer,Lisa
AU  - Smitka,Martin
AU  - Wolf,Christine
AU  - Lucas,Nadja
AU  - Tüngler,Victoria
AU  - Hahn,Gabriele
AU  - Tzschach,Andreas
AU  - Di Donato,Nataliya
AU  - Lee-Kirsch,Min Ae
AU  - von der Hagen,Maja
TI  - Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene
SN  - 1532-2130
PY  - 2018///0702
KW  - Adenosine Deaminase
KW  - genetics
KW  - Adolescent
KW  - Autoimmune Diseases of the Nervous System
KW  - diagnosis
KW  - Child, Preschool
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Nervous System Malformations
KW  - Phenotype
KW  - RNA-Binding Proteins
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejpn.2017.11.003
ER  -