Article
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
European journal of medical genetics - 1 Apr 2020
Nilay Güneş, Kutlu Tufan, Tekant Gonca Topuzlu, Eroğlu Ayşe Güler, Üstündağ Nil Çomunoğlu, Öztürk Birol, Onay Hüseyin, Tüysüz Beyhan
Abstract excerpt
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1...
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