<i>HESX1</i>Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism
David McNay, Mehul Dattani(Great Ormond Street Hospital), James Turton, Raja Brauner(Délégation Paris 5), Kathryn Woods‐Townsend(Newcastle University), Daniel Kelberman(Great Ormond Street Hospital), Heiko Krude(Humboldt-Universität zu Berlin), Stephen M. Shalet(National Health Service), Alexandra Keller(Leipzig University), Anastasios Papadimitriou(National and Kapodistrian University of Athens), Eberhard Keller, Nele Haufs(Charité - Universitätsmedizin Berlin)
Cited by 156
Related Papers
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
|Nature Genetics|1998|1.7k
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
|The Lancet|2004|707
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
|The Journal of Clinical Endocrinology & Metabolism|2014|569
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
|Nature Genetics|1998|503
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
|New England Journal of Medicine|2016|480