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Novel Subtype of Congenital Generalized Lipodystrophy Associated With Muscular Weakness and Cervical Spine Instability

Congenital generalized lipodystrophy (CGL) is a rare auto-somal recessive disorder characterized by extreme paucity of adipose tissue from birth, and early onset of metabolic complications related to insulin resistance. Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2...

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Bibliographische Detailangaben
Hauptverfasser: Simha, Vinaya, Agarwal, Anil K., Aronin, Patricia A., Iannaccone, Susan T., Garg, Abhimanyu
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2716114/
https://ncbi.nlm.nih.gov/pubmed/18698612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32457
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