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Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings

✍ Scribed by Siegfried M. Pueschel; Calvin E. Oyer


Book ID
104712939
Publisher
Springer
Year
1995
Tongue
English
Weight
562 KB
Volume
11
Category
Article
ISSN
0256-7040

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Joubert syndrome with bilateral polymicr
✍ L. Giordano; A. Vignoli; L. Pinelli; F. Brancati; P. Accorsi; F. Faravelli; R. G πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 172 KB πŸ‘ 1 views

## Abstract Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called β€œmolar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients