Cockayne syndrome: The expanding clinical and mutational spectrum

Mechanisms of Ageing and Development

Volumn 134, Issue 5-6, 2013, Pages 161-170

  Laugel, Vincent ^a  

^a HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

Clinical subtypes; Cockayne syndrome; CSA; CSB; Diagnostic criteria

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE;

ARTHROPATHY; ARTICLE; BONE DISEASE; CARDIOVASCULAR DISEASE; CATARACT; CLINICAL FEATURE; COCKAYNE SYNDROME; COFS SYNDROME; CSA GENE; CSB GENE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENDOCRINE DISEASE; FACIES; FAILURE TO THRIVE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; KIDNEY DISEASE; LIVER DISEASE; MICROCEPHALY; MOLECULAR GENETICS; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERCEPTION DEAFNESS; PHOTOSENSITIVITY; PREMATURE AGING; PRIORITY JOURNAL; RETINOPATHY; TOOTH DISEASE;

AGE OF ONSET; COCKAYNE SYNDROME; DNA HELICASES; DNA REPAIR ENZYMES; HUMANS; MUTATION; TRANSCRIPTION FACTORS;

EID: 84878016439     PISSN: 00476374     EISSN: 18726216     Source Type: Journal    
DOI: 10.1016/j.mad.2013.02.006     Document Type: Article

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