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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.

Authors :
Ricotti, R.
Nardo, T.
Striano, P.
Stefanini, M.
Orioli, D.
Botta, E.
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