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X-linked retinoschisis: A clinical and molecular genetic review

โœ Scribed by Avinash Tantri; Tamara R Vrabec; Andrew Cu-Unjieng; Arcilee Frost; William H Annesley Jr.; Larry A Donoso


Book ID
116896246
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
632 KB
Volume
49
Category
Article
ISSN
0039-6257

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X-linked congenital ataxia: A clinical a
โœ Bertini, Enrico; des Portes, Vincent; Zanni, Ginevra; Santorelli, Filippo; Dioni ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 25 KB ๐Ÿ‘ 1 views

We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular di