Cockayne syndrome–xeroderma pigmentosum complex with demyelination: A rare association.
Indian J Hum Genet
;
2012 Jan; 18(1): 125-126
Article
in English
| IMSEAR
| ID: sea-139459
ABSTRACT
Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Xeroderma Pigmentosum
/
Female
/
Humans
/
Child
/
Demyelinating Diseases
/
Facial Asymmetry
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS