Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease leopard syndrome
Comorbidity C0007194|hypertrophic cardiomyopathy
Sentences 2
PubMedID- 21910226 Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with leopard syndrome and a novel ptpn11 mutation gln510his.
PubMedID- 21207217 In a similar way, molecular features of hypertrophic cardiomyopathy found in patients with leopard syndrome have also been recapitulated in vitro using ips cells coupled with cardiac differentiation protocols [27].

Page: 1