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  • Title: Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association.
    Author: Singh UR, Asif S, Kommu PP, D'Souza P.
    Journal: Indian J Hum Genet; 2012 Jan; 18(1):125-6. PubMed ID: 22754238.
    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.
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