title: Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.
authors.affiliation: Clinical Genetic Department, Nantes University Hospital, Nantes, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Ramos
authors.forename: Sabine
authors.initials: S
authors.lastname: Baron
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D000293:Adolescent; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D009395:Nephritis, Interstitial / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone