A Rare LMNA Missense Mutation Causing a Severe Phenotype of Mandibuloacral Dysplasia Type A: A Case Report
January 2024
in “
Revista Paulista de Pediatria
”
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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