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  1. 1
    P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome

    P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome by Burak Altintas, Maria Stunkel, Gary Gottesman, Jennifer Heeley

    Published 2025-01-01
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  2. 2
    P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case

    P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case by Burak Altintas, Andrea Stacy, Katie Gettinger, David Wilson, Marwan Shinawi

    Published 2025-01-01
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