Article
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.
The Journal of clinical endocrinology and metabolism - 1 May 2007
Monajemi Houshang, Zhang Lin, Li Gang, Jeninga Ellen H, Cao Henian, Maas Mario, Brouwer C B, Kalkhoven Eric, Stroes Erik, Hegele Robert A, Leff Todd
Abstract excerpt
CONTEXT: Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor-gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660) and the PPARG form is called FPLD3 (MIM 604367). OBJECTIVE: Our objective was to investigate whether the clinical phenotype of this proband is due to...
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