Early-onset type 1 diabetes mellitus in a child with a pathogenic <i>CTLA4</i> variant complicated by generalized lipodystrophy and severe insulin resistance: a case report and literature review. [PDF]
Transl PediatrDing Y +8 more
europepmc +1 more source
Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later-Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia. [PDF]
Case Rep GenetArany ES, Zocche D, Cobben J.
europepmc +1 more source
Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks. [PDF]
EBioMedicineSharp LN +7 more
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Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases. [PDF]
Endocr JKitamura T +4 more
europepmc +1 more source
Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous <i>LMNA</i> variants. [PDF]
J Endocr SocAnum, Li X, Brown RJ, Garg A.
europepmc +1 more source
Voice Quality in Individuals With Acquired Immunodeficiency Syndrome. [PDF]
Int J Lang Commun DisordMedina V +4 more
europepmc +1 more source
A Rare Instance of Concordant Charcot-Marie-Tooth Disease and Familial Partial Lipodystrophy Type 2. [PDF]
CureusBachir MA +4 more
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Evaluating the therapeutic impact of tirzepatide in people with partial lipodystrophy.
J Clin Endocrinol MetabMandour MO +6 more
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Bloom Syndrome Presenting as Early-Onset Bilateral Breast Cancer and Multisystem Metabolic Disease: A Case Report. [PDF]
CureusBracquez F +4 more
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