Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants

CONTEXT: Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal-dominant disorder due to heterozygous missense lamin A/C (LMNA) mutations. Subjects with FPLD2 gradually lose fat from the upper and lower extremities but gain fat in the face and neck around puberty. However, the...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Endocrinol Metab
Prif Awduron: Patni, Nivedita, Li, Xilong, Adams-Huet, Beverley, Vasandani, Chandna, Gomez-Diaz, Rita A, Garg, Abhimanyu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Endocrine Society 2018
Pynciau:
Clinical Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382455/
https://ncbi.nlm.nih.gov/pubmed/30418556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01922
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