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Article

[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2013

Caldas Dayse, Silva Júnior Wellington Santana da, Simonetti José Pascoal, Costa Eliane Veiga da, Farias Maria Lucia Fleiuss de

Abstract excerpt

OBJECTIVE: To evaluate clinical, biochemical, hormonal and genetic characteristics of relatives of two patients with familial partial lipodystrophy (FPLD) type 2. MATERIALS AND METHODS: Fifty subjects, members of two non-related Brazilian families from two different probands with FPLD phenotype, were evaluated. A mutation in exon 8 of LMNA gene was confirmed in 18 of them, and a heterozygous substitution at codon...

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Source

Identifiers

PMID: 24343626
DOI: 10.1590/s0004-27302013000800002

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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