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Article

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].

Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2011

Barra Cristiane B, Savoldelli Roberta D, Manna Thais D, Kim Chong A, Magre Jocelyn, Porta Gilda, Setian Nuvarte, Damiani Durval

Abstract excerpt

OBJECTIVE: To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS AND METHODS: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. RESULTS: Leptin deficiency and...

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Source

Identifiers

PMID: 21468520
DOI: 10.1590/s0004-27302011000100007

Genes

AGPAT2
CAV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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