Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability


Sager G., TÜRKYILMAZ A., Hanedar Y. D., Günbey H. P., Akin Y.

Clinical dysmorphology, vol.32, no.1, pp.18-20, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.1097/mcd.0000000000000433
  • Journal Name: Clinical dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.18-20
  • Karadeniz Technical University Affiliated: Yes