Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor - Farooqi, I. Sadaf; Wangensteen, Teresia; Collins, Stephan; Kimber, Wendy; Matarese, Giuseppe; Keogh, Julia M; Lank, Emma; Bottomley, Bill; Lopez-Fernandez, Judith; Ferraz-Amaro, Ivan; Dattani, Mehul T; Ercan, Oya; et al. (The New England journal of medicine, 2007)
Keywords: Adult; Age; Age of Onset; Basal Metabolism; Biological and medical sciences; Body Composition; Child; Diagnosis, Differential; Female; General aspects; Genes; Genetic counseling; Genotype; Humans; Hyperphagia - blood; Hyperphagia - complications; Hyperphagia - genetics; Hypogonadism - blood; Hypogonadism - complications; Hypogonadism - genetics; Immunologic Deficiency Syndromes - blood; Immunologic Deficiency Syndromes - complications; Immunologic Deficiency Syndromes - genetics; Leptin - blood; Lymphocyte Count; Male; Medical sciences; Metabolism, Inborn Errors - blood; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Mutation; Obesity; Obesity - blood; Obesity - complications; Obesity - genetics; Original; Pedigree; Phenotype; Receptors, Cell Surface - deficiency; Receptors, Cell Surface - genetics; Receptors, Leptin; Studies; Medicine; Symptomatology; Congenital; Deficiency; Leptin; Genetics; Biological receptor