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White matter abnormalities in siblings with Goldberg Shprintzen syndrome

✍ Scribed by J. Pilch; J.D.H. Jongbloed; E. Kluczewska; P.M. Grootscholten; E. Emich-Widera; E. Marszał

Book ID
114359209
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
42 KB
Volume
12
Category
Article
ISSN
1090-3798

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✍ Ohnuma, Kei; Imaizumi, Kiyoshi; Masuno, Mitsuo; Nakamura, Mihoko; Kuroki, Yoshik 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 3 views

Inheritance of the syndrome is suggested to be autosomal recessive. Electroencephalogram (EEG) was abnormal in four of five individuals studied. The brain computed tomography (CT) was abnormal in 9 of 10 individuals and the abnormalities included a small and thick vault, irregular margins of the ven