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    P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome

    P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome by Sofia Catena, Joanna Gonzalez, Krisna Maddy, Matthew Rodier, Nicholas Borja

    Published 2024-01-01
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  2. 2
    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder by Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

    Published 2024-01-01
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