Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).
Prontera
Paolo
P
Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
Stangoni
Gabriela
G
Manes
Iris
I
Mencarelli
Amedea
A
Donti
Emilio
E
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*
D025743:HMGA2 Protein