Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis.


Er İ., Citli S., Bektas D., Bankoglu Yildirim H., Unal E.

Clinical dysmorphology, 2026 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2026
  • Doi Number: 10.1097/mcd.0000000000000561
  • Journal Name: Clinical dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Recep Tayyip Erdoğan University Affiliated: Yes