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Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

AuthorsPaolo Prontera, Gabriela Stangoni, Iris Manes, Amedea Mencarelli, Emilio Donti
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 3 Pg. 543-5 (Mar 2009) ISSN: 1552-4833 [Electronic] United States
PMID19215040 (Publication Type: Case Reports, Journal Article)
Chemical References
  • HMGA2 Protein
Topics
  • Child, Preschool
  • Eye Abnormalities (genetics)
  • Family
  • Female
  • HMGA2 Protein (genetics)
  • Humans
  • Intellectual Disability (genetics)
  • Lipoma (genetics, pathology)
  • Seizures (genetics)

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