Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

被引：0
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作者：
R. P. Dias
C. R. Buchanan
N. Thomas
S. Lim
G. Solanki
SEJ Connor
T. G. Barrett
R. R. Kapoor
机构：
[1] Birmingham Children’s Hospital,Department of Paediatric Endocrinology and Diabetes
[2] King’s College Hospital,Department of Child Health
[3] Kings College Hospital,Department of Neurosurgery
[4] St John’s Hospital,Department of Paediatrics
[5] Birmingham Children’s Hospital,Department of Neurosurgery
[6] Kings College Hospital,Department of Neuroradiology
[7] University of Birmingham,Centre for Rare Diseases and Personalized Medicine, Institute of Biomedical Research (West), School of Clinical and Experimental Medicine
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Neonatal Diabetes; Os Odontoideum; Wolcott-Rallison Syndrome; Atlanto-axial instability;
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摘要：
Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).
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