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Novel Heterozygous LMNA Variants Causing Familial Partial Lipodystrophy, Dunnigan Variety

Familial partial lipodystrophy (FPLD) is a rare, mostly autosomal dominant disorder characterized by selective loss of subcutaneous fat from the extremities. Patients with FPLD are predisposed to insulin resistance, dyslipidemia, diabetes mellitus, cardiac abnormalities (coronary heart disease [CHD]...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Wadhwa, Akhilesh, Vasandani, Chandna, Garg, Abhimanyu
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089313/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.068
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