LEOPARD syndrome
Sign in to saveAlso known as Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Cardiocutaneous syndrome, Generalized lentiginosis (disorder), Gorlin syndrome II, Lentiginosis profusa syndrome, Moynahan syndrome, Multiple lentigines syndrome (disorder)
rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)
Research
559 papers- LEOPARD Syndrome.International journal of dermatology · 2024
- Leopard syndrome.Orphanet journal of rare diseases · 2008
- LEOPARD syndrome with hypertrophic cardiomyopathy.QJM : monthly journal of the Association of Physicians · 2023
- Leopard syndrome.Dermatology online journal · 2008
- [LEOPARD syndrome].Kardiologiia · 2020
via PubMed