A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
ABSTRACT Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). Case description: A 6-year-old girl...
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Sociedade de Pediatria de São Paulo,
2024-05-01T00:00:00Z.
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