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Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.
- Source :
-
Clinical Genetics . Oct2018, Vol. 94 Issue 3/4, p386-388. 4p. 1 Graph. - Publication Year :
- 2018
-
Abstract
- The article looks at a study regarding phenotypic variability in xeroderma pigmentosum group G and combining the skin alterations with neurological and systemic abnormalities of Cockayne syndrome. It mentions chest X-rays showed mildly enlarged heart but no electrical defect was observed at electrocardiography (ECG). It also mentions magnetic resonance imaging revealed severe white matter abnormalities and no signs of photosensitivity.
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 94
- Issue :
- 3/4
- Database :
- Academic Search Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 131706023
- Full Text :
- https://doi.org/10.1111/cge.13364