lipodystrophy

(redirected from congenital generalized lipodystrophy)
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lipodystrophy

[‚lip·ə′dis·trə·fē]
(medicine)
A disturbance of fat metabolism in which the subcutaneous fat disappears over some regions of the body, but is unaffected in others.
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References in periodicals archive ?
Hsiao et al., "A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene," Kaohsiung Journal of Medical Sciences, vol.
Haghighi et al., "Congenital generalized lipodystrophy: Identification of novel variants and expansion of clinical spectrum," Clinical Genetics, vol.
Exploring Seipin: From Biochemistry to Bioinformatics Predictions
Oral et al., "Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy," Journal of Clinical Endocrinology and Metabolism, vol.
Pathogenesis of the metabolic syndrome: insights from monogenic disorders
Congenital generalized lipodystrophy. J Pediatr (Rio J) 2004; 80(4):333-336.
Sindrome de Berardinelli. reporte de un caso con evolucion fatal
Congenital generalized lipodystrophy (CGL), first described by Berardinelli in 1954 (1), is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue at birth (2,3).
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

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