Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.
Rare Diseases and Medical Genetic Unit DPUO Endocrinologic Unit General Pediatrics and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
Paola Sabrina
PS
Buonuomo
Marina
M
Macchiaiolo
Paola
P
Cambiaso
Ippolita
I
Rana
Maria Cristina
MC
Digilio
Andrea
A
Bartuli
D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000235:genetics*; D038061:Lower Extremity Deformities, Congenital / Q000503:physiopathology*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit