Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.


Guleray N., Kosukcu C., Taskiran Z., Simsek K., Utine G., Gucer S., ...More

Fetal and pediatric pathology, vol.39, no.2, pp.163-171, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.1080/15513815.2019.1639089
  • Journal Name: Fetal and pediatric pathology
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.163-171
  • Keywords: Sengers syndrome, AGK, postmortem genetic testing, whole exome sequencing, MITOCHONDRIAL MYOPATHY, CONGENITAL CATARACT, AGK GENE, SKELETAL, MUSCLE, HEART