The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

GÜNEŞ N., USLUER E., YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., ÇİFÇİ SUNAMAK E., CELEP EYÜPOĞLU F., ...Daha Fazla

TURKISH ARCHIVES OF PEDIATRICS, cilt.58, sa.1, ss.98-104, 2023 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.5152/turkarchpediatr.2022.22223
  • Dergi Adı: TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.98-104
  • Anahtar Kelimeler: Trichorhinophalangeal syndrome, TRPS1, brachydactyly, cone-shaped epiphyses, exostosis, TRPS1 GENE, MISSENSE MUTATION, APOPTOSIS, PHENOTYPE, FAMILY
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Objective: Trichorhinophalangeal syndrome is a rare autosomal dominant disorder characterized by distinctive craniofacial and skeletal abnormalities. This study aimed to delineate the trichorhinophalangeal syndrome phenotype and to compare the clinical and molecular findings between trichorhinophalangeal syndrome types I and II.