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Article

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

European journal of medical genetics - 1 Jun 2016

Akinci Gulcin, Topaloglu Haluk, Akinci Baris, Onay Huseyin, Karadeniz Cem, Ergul Yakup, Demir Tevfik, Ozcan Emin Evren, Altay Canan, Atik Tahir, Garg Abhimanyu

Abstract excerpt

Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial...

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Identifiers

PMID: 27167729
DOI: 10.1016/j.ejmg.2016.05.001
PMCID: PMC7605892

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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