Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
Kosztolányi
G
G
Department of Paediatrics, University Medical School, Pécs, Hungary.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000266:history; D005260:Female; D006130:Growth Disorders; D049673:History, 20th Century; D006801:Humans; D007231:Infant, Newborn; D007333:Insulin Resistance; D011972:Receptor, Insulin / Q000235:genetics*; D013577:Syndrome
D011972:Receptor, Insulin