https://orcid.org/0000-0002-3958-5881
References
- Tang Q, Gong D, X-M Y, et al. A case report of cardiofaciocutaneous syndrome with MAP2K1 pathogenic variant. Pharmgenomics Pers Med. 2023;16:817–823. doi:10.2147/pgpm.s411964
- Szczawińska-Popłonyk A, Popłonyk N, Niedziela M, et al. Case report: the cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: a multifaceted disease with immunodeficiency and short stature. Front Pediatr. 2022;10:1–10. doi:10.3389/fped.2022.990111
- Tzen EYL, Lim JY, Cheah SM, et al. Diverse clinical manifestations of cardiofaciocutaneous syndrome type 3 in two patients from South East Asia. Mol Syndromol. 2023;14(1):21–29. doi:10.1159/000525434
- Akahoshi S, Hirano A, Nagamine H, Miura M. Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium. Am J Med Genet Part A. 2020;182(3):532–535. doi:10.1002/ajmg.a.61448
- Serra G, Felice S, Antona V, et al. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene. Ital J Pediatr. 2022;48(1):1–6. doi:10.1186/s13052-022-01241-6
- Jurcă MC, Iuhas OA, Puiu M, et al. Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature. Rom J Morphol Embryol. 2021;62(2):563–568. doi:10.47162/RJME.62.2.23