Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.
Isidor
Bertrand
B
Clinical Genetic Department, Nantes University Hospital, Nantes, France.
Le Merrer
Martine
M
Ramos
Emmanuelle
E
Baron
Sabine
S
David
Albert
A
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
D019382:Human Growth Hormone