title: [Cockayne syndrome: a new mutation in the ERCC8 gene].
authors: Rocío
authors: R
authors: Conchello-Monleón
authors: José L
authors: JL
authors: Peña-Segura
authors: Ángela
authors: Á
authors: Tello-Martín
authors: Lorena
authors: L
authors: Monge-Galindo
authors: Ana
authors: A
authors: Cabrejas-Lalmolda
authors: M Dolores
authors: MD
authors: Miramar
authors: Javier
authors: J
authors: López-Pisón
mesh_terms: D001921:Brain / Q000473:pathology; D002547:Cerebral Palsy / Q000175:diagnosis; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D045643:DNA Repair Enzymes / Q000235:genetics*; D003951:Diagnostic Errors; D018450:Disease Progression; D004293:Dominican Republic / Q000208:ethnology; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; C095472:ERCC8 protein, human; D014157:Transcription Factors; D045643:DNA Repair Enzymes