Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. [electronic resource]
Producer: 20200930Description: 103629 p. digitalISSN:- 1878-0849
- Adult
- Alopecia -- complications
- Carrier Proteins -- genetics
- Child, Preschool
- Connective Tissue Diseases -- complications
- Cutis Laxa -- complications
- Face -- diagnostic imaging
- Female
- Frameshift Mutation -- genetics
- Genetic Predisposition to Disease
- Guanine Nucleotide Exchange Factors -- genetics
- Homozygote
- Humans
- Leukoencephalopathies -- complications
- Magnetic Resonance Imaging
- Male
- Megalencephaly -- complications
- Pedigree
- Scoliosis -- complications
- White Matter -- abnormalities
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Publication Type: Journal Article
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