Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One case of Berardinelli-Seip syndrome or generalized Lipodistrophy is presented: generalized lack of adipose tissue, hepatosplenomegaly, increased development, hardness and prominence of muscles and phlebomegaly were present. In the presence of hormonal investigation (STH normal, LH and plasma testosterone increased) the possible pathogenesis of the syndrome is exposed. It is also striking the high incidence of this disorder in siblings.
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PMID:[Generalized lipodistrophy (Berardinelli-Seip syndrome)]. 112 84