title: Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia.
authors.affiliation: Pathology and Laboratory Medicine, All Childrens Hospital, Saint Petersburg, FL 33701, USA.
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D025962:Septo-Optic Dysplasia / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; C489736:HESX1 protein, human; D018398:Homeodomain Proteins