ArticleJournal of the Endocrine Society2020
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to
Article in Journal of the Endocrine Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific.JCI insight · 2026Article
- Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.Frontiers in endocrinology · 2026Article
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.International journal of molecular sciences · 2024Review
- Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.Journal of endocrinological investigation · 2024Article
- Navigating Lipodystrophy: Insights from Laminopathies and Beyond.International journal of molecular sciences · 2024Review
- Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.Archives of endocrinology and metabolism · 2024Article
- Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022Review
- Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation.Journal of endocrinological investigation · 2022Article
- Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.Frontiers in pediatrics · 2022Article
- Partial Lipodystrophy and LMNA p.R545H Variant.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose, and partial alopecia manifesting around 10 to 15 years of age recurrently associated with: (1) partial lipodystrophy; (2) proteinuric nephropathy; (3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); and (4) sensorineural hearing impairment. In all patients, genetic testing revealed a missense heterozygous lamin A/C gene (
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