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Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

✍ Scribed by Edwards, M. J. ;Challinor, C. J. ;Colley, P. W. ;Roberts, J. ;Partington, M. W. ;Hollway, G. E. ;Kozman, H. M. ;Mulley, J. C.


Book ID
102702415
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
626 KB
Volume
53
Category
Article
ISSN
0148-7299

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A large Italian family with Gilles de la
✍ Giovanni Fabbrini; Massimo Pasquini; Cinzia Aurilia; Isabella Berardelli; Guido πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 217 KB

## Abstract Our objective was to report the clinical characteristics and to investigate the role of __SLITRK1__ gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to β€œThe Tourette Syndrome Classification Study Group” (1993