Novel human pathological mutations. Gene symbol: MC2R. Disease: Glucocorticoid deficiency.
Mueller
O Thomas
OT
Pathology, All Childrens Hospital, 6th Street South, 801, 33701, Saint Petersburg, USA. muellert@allkids.org
Coovadia
Adam
A
D003062:Codon / Q000235:genetics; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D020125:Mutation, Missense; D044103:Receptor, Melanocortin, Type 2 / Q000235:genetics*
D003062:Codon; D005938:Glucocorticoids; D044103:Receptor, Melanocortin, Type 2