Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.


Samur B. M., Gümüş G., Canpolat M., Gümüş H., Per H., Cağlayan A. O.

Clinical dysmorphology, vol.31, pp.125-131, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31
  • Publication Date: 2022
  • Doi Number: 10.1097/mcd.0000000000000411
  • Journal Name: Clinical dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.125-131
  • Keywords: phenotypic expansion, whole-exome sequencing
  • Dokuz Eylül University Affiliated: Yes