High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy

(2016) Josivan G. Lima et al.   Diabetology & Metabolic Syndrome

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

(2015) A. Haghighi et al.   CLINICAL GENETICS

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis

(2015) Chihiro Ebihara et al.   HUMAN MOLECULAR GENETICS

Function of seipin: New insights from Bscl2/seipin knockout mouse models

(2013) Lucile Dollet et al.   BIOCHIMIE

Lipodystrophies: Disorders of adipose tissue biology

(2009) Abhimanyu Garg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

(2008) B. Friguls et al.   European Journal of Medical Genetics