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EntityQ1798016· pop 14· linked from 76 articles

LEOPARD syndrome

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Also 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

via PubMed