A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature

Bukola A. Olarewaju, Judy B. Tejon, Mohammed Tiseer Abbas, Joanne F. Shen, Ali Turkmani, Marissa Susan Ellingson, Wei Shen, Mayowa Azeez Osundiji (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Article numbere64098
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Early online date21 Apr 2025
DOIs
Publication statusE-pub ahead of print - 21 Apr 2025

Keywords

  • Alagille syndrome
  • JAG1
  • primary vitreous

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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