Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.


Türkyilmaz A., Sager S. G., Topcu B., Kaplan A. T., Günbey H. P., Akin Y.

Clinical dysmorphology, vol.31, pp.45-49, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31
  • Publication Date: 2022
  • Doi Number: 10.1097/mcd.0000000000000389
  • Journal Name: Clinical dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.45-49
  • Karadeniz Technical University Affiliated: Yes