title: Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).
authors.affiliation: Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Gabriela
authors.initials: G
authors.lastname: Stangoni
authors.forename: Iris
authors.initials: I
authors.lastname: Manes
authors.forename: Amedea
authors.initials: A
authors.lastname: Mencarelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
mesh_terms: D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics*; D005190:Family; D005260:Female; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008067:Lipoma / Q000235:genetics* / Q000473:pathology; D012640:Seizures / Q000235:genetics*
chemical_list: D025743:HMGA2 Protein