title: Novel human pathological mutations. Gene symbol: NR0B1. Disease: Adrenal Hypoplasia.
authors.affiliation: Pathology and Laboratory Medicine, All Childrens Hospital, 6th Street South, 801, 33701, Saint Petersburg, USA.
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: Adam
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D000307:Adrenal Gland Diseases / Q000235:genetics*; D000311:Adrenal Glands / Q000002:abnormalities*; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D017384:Sequence Deletion
chemical_list: D003062:Codon; D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human