Leptin receptor deficiency

Definition:

Leptin receptor deficiency is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease.

References:

[1]. I Sadaf Farooqi, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med. 2007 Jan 18;356(3):237-47. [Content Brief]

[2]. K Clément, et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature. 1998 Mar 26;392(6674):398-401. [Content Brief]

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