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Article

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

European journal of human genetics : EJHG - 1 Aug 2005

Klar Joakim, Asling Bengt, Carlsson Birgit, Ulvsbäck Magnus, Dellsén Anita, Ström Carina, Rhedin Magdalena, Forslund Anders, Annerén Göran, Ludvigsson Jonas F, Dahl Niklas

Abstract excerpt

We have identified a family comprising a mother and two children with idiopathic and profound obesity body mass index (BMI) 41-49 kg/m(2). The three family members carry a balanced reciprocal chromosome translocation t(4;15). We present here the clinical features of the affected individuals as well as the physical mapping and cloning of the chromosomal breakpoints. A detailed characterisation of the chromosomal...

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Source

Identifiers

PMID: 15886715
DOI: 10.1038/sj.ejhg.5201433

Genes

PDHA2

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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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