Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML)
Am J Med Genet A
.
2009 Mar;149A(3):543-5.
doi: 10.1002/ajmg.a.32692.
Authors
Paolo Prontera
1
,
Gabriela Stangoni
,
Iris Manes
,
Amedea Mencarelli
,
Emilio Donti
Affiliation
1
Medical Genetics Unit, University of Perugia, Perugia, Italy.
[email protected]
PMID:
19215040
DOI:
10.1002/ajmg.a.32692
No abstract available
Publication types
Case Reports
MeSH terms
Child, Preschool
Eye Abnormalities / genetics*
Family
Female
HMGA2 Protein / genetics*
Humans
Intellectual Disability / genetics*
Lipoma / genetics*
Lipoma / pathology
Seizures / genetics*
Substances
HMGA2 Protein