Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33


Per H.

MOLECULAR SYNDROMOLOGY, vol.14, no.12, pp.1-14, 2024 (SCI-Expanded)

  • Publication Type: Article / Article
  • Volume: 14 Issue: 12
  • Publication Date: 2024
  • Doi Number: 10.1159/000543107
  • Journal Name: MOLECULAR SYNDROMOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1-14
  • Erciyes University Affiliated: Yes