Navegação Ciências da Saúde por Assunto "Disostose mandibulofacial"

Resultados 1-1 de 1

    • Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients 

      Masotti, Cibele Luiza; Ornelas, Camila C.; Gordonos, Alessandra Splendore; Moura, Ricardo; Felix, Temis Maria; Alonso, Nivaldo; Camargo, Anamaria A.; Bueno, Maria Rita Passos (2009) [Artigo de periódico]
      Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are ...