A case with spondyloenchondroplasia with immune dysregulation (SPENCDI) caused by a novel missense ACP5 mutation

Öztürk N., ULUDAĞ ALKAYA D., Karamık G., NUR B., TÜYSÜZ B., MIHÇI E.

ESHG, VİYANA, Austria, 11 - 14 June 2022, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • City: VİYANA
  • Country: Austria
  • Akdeniz University Affiliated: Yes