Article
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.
JAMA dermatology - 1 Dec 2013
Frouin Eric, Laugel Vincent, Durand Myriam, Dollfus Hélène, Lipsker Dan
Abstract excerpt
IMPORTANCE: Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. OBSERVATIONS: A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to...
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