A de novo novel frameshift variant in the penultimate exon of FBN1 gene cause of rare Marfan lipodystrophy syndrome

DOĞAN M. E., DÜNDAR M.

13th Balkan Congress of Human Genetics, 17 - 20 April 2019, vol.22, pp.69, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • Volume: 22
  • Page Numbers: pp.69
  • Erciyes University Affiliated: Yes