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Article

Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Jan 2003

Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J

Abstract excerpt

Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD). We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W. Genetic studies were carried out on 14 members of the family. In eleven heterozygous mutation carriers (6 men, 5 women), body composition...

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PMID: 12669268
DOI: 10.1055/s-2003-38388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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