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

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. F...

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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Med Genet
Auteurs principaux: Akinci, Gulcin, Topaloglu, Haluk, Akinci, Baris, Onay, Huseyin, Karadeniz, Cem, Ergul, Yakup, Demir, Tevfik, Ozcan, Emin Evren, Altay, Canan, Atik, Tahir, Garg, Abhimanyu
Format: Artigo
Langue:Inglês
Publié: 2016
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605892/
https://ncbi.nlm.nih.gov/pubmed/27167729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.05.001
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