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De Sanctis-Cacchione Syndrome

Authors
  • Kumar, Jyoti
Publication Date
Feb 25, 2020
Source
I-Revues
Keywords
Language
English
License
Unknown
External links

Abstract

De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum that occur along with neurological abnormalities, microcephaly, progressive mental retardation, dwarfism, hypogonadism, deafness, ataxia and quadriparesis. This syndrome is the most severe form of XP. It has also been associated with mutations in the ERCC6, XPA, ERCC2 (XPD), and XPC genes, which play roles in the transcription coupled nucleotide excision repair system.

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