Article
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.
Molecular genetics and metabolism - 1 Jul 2012
Vauthier Virginie, Jaillard Sylvie, Journel Hubert, Dubourg Christèle, Jockers Ralf, Dam Julie
Abstract excerpt
CONTEXT: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS: We describe here a 7-year old patient with a homozygous 80 kb deletion in the chromosomal 1p31.3 region with early ons...
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