[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. [electronic resource]
Producer: 20161219Description: 165-9 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article
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