A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

• Principais autores: Adriana Amaral Carvalho (Autor), Renato Assis Machado (Autor), Célia Márcia Fernandes Maia (Autor), Luis Antônio Nogueira dos Santos (Autor), Daniella Reis Barbosa Martelli (Autor), Ricardo Della Coletta (Autor), Hercílio Martelli Júnior (Autor)
• Formato: Livro
• Publicado em: Sociedade de Pediatria de São Paulo, 2024-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...