MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in <i>SAMD9</i>


Cinleti T., Gülen A., Sönmez B., Gürsoy S., Boyacioğlu Ö. K., Asilsoy S., ...More

CLINICAL DYSMORPHOLOGY, vol.32, no.3, pp.133-138, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 3
  • Publication Date: 2023
  • Doi Number: 10.1097/mcd.0000000000000460
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.133-138
  • Keywords: achalasia, life expectancy, MIRAGE syndrome, novel mutation
  • Dokuz Eylül University Affiliated: Yes