TY  - GEN
AU  - Dale,Russell C
AU  - Gornall,Hannah
AU  - Singh-Grewal,Davinder
AU  - Alcausin,Melanie
AU  - Rice,Gillian I
AU  - Crow,Yanick J
TI  - Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures
SN  - 1552-4833
PY  - 2010///0708
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Chronic Disease
KW  - Contracture
KW  - complications
KW  - DNA Mutational Analysis
KW  - Family
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Joint Diseases
KW  - Male
KW  - Monomeric GTP-Binding Proteins
KW  - Mutation
KW  - Pedigree
KW  - Pregnancy
KW  - SAM Domain and HD Domain-Containing Protein 1
KW  - Syndrome
KW  - Urticaria
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.33359
ER  -