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 (Peer-Reviewed Journal) 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, Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.45-49