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Large contiguous gene deletions in Sjögren–Larsson syndrome

✍ Scribed by Holly Engelstad; Gael Carney; Dana S'Aulis; Janae Rise; Warren G. Sanger; M. Katharine Rudd; Gabriele Richard; Christopher W. Carr; Omar A. Abdul-Rahman; William B. Rizzo


Book ID
116989360
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
598 KB
Volume
104
Category
Article
ISSN
1096-7192

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A family with 12 children, 6 of whom had Sjrgren-Larsson syndrome, was studied clinically. On CT, all six siblings with the disease had patchy regions of white matter hypodensity, most marked in the frontal lobes, which were confluent in the more severe cases. The ventricles were not enlarged and no