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Schwartz-Jampel syndrome: An atypical form?

✍ Scribed by Figuera, Luis E. ;Jimenez-Gil, F. Javier ;García-Cruz, M. Olga ;Cantú, José M.

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
271 KB
Volume
47
Category
Article
ISSN
0148-7299

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Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stu ¨ve-Wiedemann syndrome (SWS), which comprises