Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome


Sah H., Sanlidag B., Manara E., Terali K., Paolacci S., Mocan G., ...More

FEBS OPEN BIO, vol.8, pp.143, 2018 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Abstract
  • Volume: 8
  • Publication Date: 2018
  • Title of Journal : FEBS OPEN BIO
  • Page Numbers: pp.143