Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.

doi:10.1038/ijo.2016.160

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Article

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.

International journal of obesity (2005) - 1 Dec 2016

Yu T, Li J, Li N, Liu R, Ding Y, Chang G, Chen Y, Shen Y, Wang X, Wang J

Abstract excerpt

OBJECTIVE: Uniparental disomy (UPD) is an unusual situation wherein two homologous chromosomes are inherited from the same parent. UPDs can cause clinical abnormalities owing to the aberrant dosage of genes regulated by epigenetic imprinting or homozygosity of variants for recessive phenotypes. The aim of this study was to identify the genetic cause of the obesity and developmental delay phenotype in a 3-year-old...

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Topics

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Share to Abnormalities, Multiple
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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, G-Protein-Coupled

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Source

Open in PubMed

Identifiers

PMID: 27654142
DOI: 10.1038/ijo.2016.160

Genes

GPBAR1
CAPN10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.