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

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, Luísa Diogo, Isabel Gonçalves, Susana Nobre
Format: Artículo Open Access
Published: Wiley 2025
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