[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].

Ortiz-Madinaveitia, Saturnino

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. [electronic resource] - Revista de neurologia Feb 2016 - 165-9 p. digital

Publication Type: Case Reports; Journal Article

1576-6578


Autoimmune Diseases of the Nervous System--diagnostic imaging
Basal Ganglia--diagnostic imaging
Biopterins--cerebrospinal fluid
Calcinosis--etiology
Feeding and Eating Disorders of Childhood--genetics
Genetic Association Studies
Heterozygote
Humans
Infant
Intellectual Disability--genetics
Magnetic Resonance Imaging
Male
Muscle Spasticity--genetics
Mutation, Missense
Neopterin--cerebrospinal fluid
Nervous System Malformations--diagnostic imaging
Neuroimaging
Phenotype
Ribonuclease H--deficiency
Sequence Analysis, DNA