@article{carvalho_machado_maia_santos_martelli_coletta_martelli júnior_2024,  title={A rare <i>LMNA</i> missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report},  volume={42},  ISSN={0103-0582},  url={https://doi.org/10.1590/1984-0462/2024/42/2022189},  DOI={10.1590/1984-0462/2024/42/2022189},  journal={Revista Paulista de Pediatria},  publisher={Sociedade de Pediatria de São Paulo},  author={Carvalho, Adriana Amaral and Machado, Renato Assis and Maia, Célia Márcia Fernandes and Santos, Luis Antônio Nogueira dos and Martelli, Daniella Reis Barbosa and Coletta, Ricardo Della and Martelli Júnior, Hercílio},  year={2024},  pages={e2022189} }