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 (SCI-Expanded) identifier

  • Publication Type: Article / Abstract
  • Volume: 8
  • Publication Date: 2018
  • Journal Name: FEBS OPEN BIO
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.143
  • Bursa Uludag University Affiliated: Yes