A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.


ULUCAN H.

CLINICAL DYSMORPHOLOGY, cilt.12, ss.199-201, 2003 (SCI-Expanded)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12
  • Basım Tarihi: 2003
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.199-201
  • İstanbul Üniversitesi Adresli: Evet