Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

GÜRSOY S., HAZAN F., ZİHNİ C., ACAR S., YILMAZER M. M., MEŞE T., ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.8, sa.3, ss.297-302, 2021 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jpr.galenos.2021.10179
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.297-302
  • Anahtar Kelimeler: Williams-Beuren syndrome, 7q11.23 deletion, supravalvular aortic stenosis, pulmonary stenosis, intellectual disability
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Aim: Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this study, we aimed to evaluate the dysmorphic and clinical manifestations of patients with Williams-Beuren syndrome.