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Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
European Journal of Pediatrics, 08/17/09
Gok F et al. – The two well–described osteolysis syndromes associated with matrix metalloproteinase–2 deficiency and mutations in the metalloproteinase–2 gene are Torg–Winchester syndrome and nodulosis–arthropathy–osteolysis variant. They are characterized by carpal–tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, authors report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.
Today in Basic Science/Genetics...keeping you current
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Neonatal seizures and Long QT Syndrome: A cardiocerebral channelopathy
Epilepsia, 11/10/09
Genetic forms of hypopituitarism and their manifestation in the neonatal period
Early Human Development, 10/30/09
BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children
European Journal of Pediatrics, 11/05/09
Today in Nephrology/Urology...keeping you current
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Is the Fowler-Stephens procedure still indicated for the treatment of nonpalpable intraabdominal testis
Journal of Pediatric Surgery, 11/05/09
Effects of grade 1 varicocele detected in the pediatric age-group on testicular development
Journal of Pediatric Surgery, 11/05/09
Pediatrician's responses to an evidence summary about renal tract imaging tests in children after urinary tract infection
BMJ - Archives of Diseases in Childhood, 10/30/09
Today in Pediatric Radiology...keeping you current
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Imaging of Back Pain in Children
American Journal of Neuroradiology, 11/23/09
Aortic Arch Recoarctation after the Norwood Stage I Palliation: The Comparative Accuracy of Blood Pressure Cuff and Echocardiographic Doppler Gradients in Detecting Significant Obstruction
Congenital Heart Disease, 11/20/09
Magnetic Resonance Imaging of the Lumbosacral Spine in Children with Chronic Constipation or Non-retentive Fecal Incontinence
The Journal of Pediatrics, 11/09/09
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