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B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome

✍ Scribed by M. Sornsakrin; K. Wenner; R. Ganschow


Publisher
Springer
Year
2008
Tongue
English
Weight
172 KB
Volume
168
Category
Article
ISSN
0340-6997

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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