title: Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
authors.affiliation: Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Jones
authors.forename: Lisa
authors.initials: L
authors.lastname: Robertson
authors.forename: Rachel
authors.initials: R
authors.lastname: Harrison
authors.forename: Cheryl
authors.initials: C
authors.lastname: Ridout
authors.forename: Pradeep
authors.initials: P
authors.lastname: Vasudevan
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000293:Adolescent; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II