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

• Үндсэн зохиолчид: Adriana Amaral Carvalho (Зохиогч), Renato Assis Machado (Зохиогч), Célia Márcia Fernandes Maia (Зохиогч), Luis Antônio Nogueira dos Santos (Зохиогч), Daniella Reis Barbosa Martelli (Зохиогч), Ricardo Della Coletta (Зохиогч), Hercílio Martelli Júnior (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Sociedade de Pediatria de São Paulo, 2024-05-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...