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    Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1

    Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1 by Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, Luísa Diogo, Isabel Gonçalves, Susana Nobre

    Published 2025-05-01
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