A case with spondyloenchondrodysplasia with immune dysregulation (SPENCD) caused by a novel missense ACP5 mutation

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Öztürk N., Uludağ Alkaya D., Karamık G., Nur B., Tüysüz B., Mıhçı E.

ESHG , Vienna, Austria, 11 - 14 June 2022, pp.2705, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • City: Vienna
  • Country: Austria
  • Page Numbers: pp.2705
  • Akdeniz University Affiliated: Yes