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., ...More

TURKISH ARCHIVES OF PEDIATRICS, vol.58, no.1, pp.98-104, 2023 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.5152/turkarchpediatr.2022.22223
  • Journal Name: TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.98-104
  • Keywords: Trichorhinophalangeal syndrome, TRPS1, brachydactyly, cone-shaped epiphyses, exostosis, TRPS1 GENE, MISSENSE MUTATION, APOPTOSIS, PHENOTYPE, FAMILY
  • Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

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.