A Novel FBN1 Variant in A Large Marfan Family with High Penetrance of Aortic Features

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ERBİLGİN Y., ÇEFLE K., ÖZTÜRK Ş., Soltanova L., KADIOĞLU P., Kocaaga S., ...More

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Germany, 1 - 04 June 2024, vol.32, pp.990, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• Volume: 32
• City: Berlin
• Country: Germany
• Page Numbers: pp.990
• Istanbul University Affiliated: Yes