COMPOUND HETEROZYGOUS DCHR24 GENE VARIANTS IN DESMOSTEROLOSIS: A CASE REPORT WITH DEVELOPMENTAL DELAY AND CORPUS CALLOSUM AGENESIS


CEYLAN KÖSE C., AKCAN M. B., SILAN F.

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 05 October 2023

  • Publication Type: Conference Paper / Summary Text
  • City: Skopje
  • Country: Macedonia
  • Çanakkale Onsekiz Mart University Affiliated: Yes