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De Sanctis-Cacchione syndrome (DSC)

DSC is an autosomal recessive syndrome consisting of xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia and sometimes neurologic complications.

OTHER NAME(S): xerodermic idiocy

ABREVIATION(S):
DSC

TYPE: growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS), mental retardation (MR)

Related patway(s): nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC6 (CSB)

OMIM: 278800

Last modification date: Aug. 17, 2011