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, cilt.197, sa.9, 2025 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 197 Sayı: 9
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1002/ajmg.a.64099
  • Dergi Adı: American journal of medical genetics. Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: CHD4, cilia, dextrocardia, NuRD complex, Sifrim–Hitz–Weis syndrome
  • Gazi Üniversitesi Adresli: Evet