A Rare LMNA Missense Mutation Causing a Severe Phenotype of Mandibuloacral Dysplasia Type A: A Case Report

    January 2024 in “ Revista Paulista de Pediatria
    Adriana Amaral Carvalho, Renato Assis Machado, Célia Márcia Fernandes Maia, Luís Santos, Daniella Reis Barbosa Martelli, Ricardo D. Coletta, Hercílio Martelli Júnior
    Studysummary In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
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