Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency
Birgit Köhler(Linde (United States)), John C. Achermann(Great Ormond Street Hospital), Vanessa Schröder(Humboldt-Universität zu Berlin), Annette Grüters(Humboldt-Universität zu Berlin), Peter Wieacker(University Hospital Magdeburg), Dirk Schnabel(Humboldt-Universität zu Berlin), Lin Lin(Aarhus University), Heike Biebermann(Charité - Universitätsmedizin Berlin), Peter H. Heidemann(University Hospital Augsburg), Bruno Ferraz‐de‐Souza(University College London)
Cited by 157
Related Papers
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
|Nature Genetics|1998|1.7k
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
|Nature Genetics|1998|502
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
|New England Journal of Medicine|2016|469
Childhood Obesity
|The Journal of Clinical Endocrinology & Metabolism|2005|416
Consensus statement : Childhood obesity
|Unknown|2005|392