Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Babazade A., Duzenli T., Mermer S., Kayhan G.

American journal of medical genetics. Part A, vol.197, no.9, 2025 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 197 Issue: 9
  • Publication Date: 2025
  • Doi Number: 10.1002/ajmg.a.64099
  • Journal Name: American journal of medical genetics. Part A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Keywords: CHD4, cilia, dextrocardia, NuRD complex, Sifrim–Hitz–Weis syndrome
  • Gazi University Affiliated: Yes