Cerebro-oculo-facio-skeletal syndrome.
Adv Exp Med Biol
; 685: 210-4, 2010.
Article
em En
| MEDLINE
| ID: mdl-20687508
ABSTRACT
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphism with prominent nasal root and/or overhanging upper lip. This syndrome is now recognized as a disorder belonging to the spectrum of inherited defects in Nucleotide Excision Repair (NER) resulting in profound photosensitivity. In COFS syndrome, as in Cockayne syndrome, DNA repair is impaired in the transcription-coupled NER pathway, but not in the global genome NER pathway. Fourteen cases so far described as COFS syndrome have been studied at the molecular levels. All mutations have been found in Cockayne syndrome gene, CSB, xeroderma pigmentosum genes, XPD and XPG and ERCC1 gene involved in the transcription-coupled NER pathway.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Doenças Ósseas
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Encefalopatias
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Oftalmopatias Hereditárias
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Distúrbios no Reparo do DNA
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Face
Limite:
Animals
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Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Japão
País de publicação:
EEUU
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ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
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USA