Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor

Sadaf Farooqi, I.; Wangensteen, Teresia; C. Collins, Stephan; L. Kimber, Wendy; Matarese, Giuseppe; M. Keogh, Julia; Lank, Emma; Bottomley, Bill; López‐Fernández, Judith; Ferraz‐Amaro, Iván; Dattani, Mehul; Ercan, Oya; Grethe Myhre, Anne; Retterstøl, Lars; Stanhope, R; Edge, Julie; A McKenzie, S; Lessan, Nader; Ghodsi, Maryam; De Rosa, Veronica; Perna, Francesco; Fontana, Silvia; Barroso, Inês; E. Undlien, Dag; O’Rahilly, Stephen

doi:10.1056/nejmoa063988

Public

Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor

Published in New England Journal of Medicine • Jan 17, 2007

Authors:

I. Sadaf Farooqi

Teresia Wangensteen

Stephan C. Collins

Abstract

BACKGROUND: A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined. METHODS: We sequenced LEPR in 300 subjects with hyperphagia and severe...

Subject

Leptin receptor

Missense mutation

Internal medicine

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