Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series

CONTEXT: Familial partial lipodystrophy type 2 (FPLD2) results from autosomal dominant mutations in the LMNA gene, causing lack of subcutaneous fat deposition and excess ectopic fat accumulation, leading to metabolic complications and reduced life expectancy. The rarity of the condition means that t...

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Detalles Bibliográficos
Autores principales: Zhong, Zhu Xuan, Harris, Julie, Wilber, Ellen, Gorman, Samantha, Savage, David B., O'Rahilly, Stephen, Stears, Anna, Williams, Rachel M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
ORIGINAL ARTICLES
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804585/
https://www.ncbi.nlm.nih.gov/pubmed/35920656
http://dx.doi.org/10.1111/cen.14806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804585/
https://www.ncbi.nlm.nih.gov/pubmed/35920656
http://dx.doi.org/10.1111/cen.14806

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