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Article

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

American journal of medical genetics. Part A - 1 Feb 2017

Purizaca-Rosillo Nelson, Mori Takayasu, Benites-Cóndor Yamali, Hisama Fuki M, Martin George M, Oshima Junko

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a...

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Identifiers

PMID: 27868354
DOI: 10.1002/ajmg.a.38053
PMCID: PMC5247312

Genes

BSCL2

Provenance

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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