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Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei and cerebellar hemispheres

✍ Scribed by M. Isaac; P. Best

Book ID
104887788
Publisher
Springer-Verlag
Year
1987
Tongue
English
Weight
482 KB
Volume
74
Category
Article
ISSN
0001-6322

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Two sib cases of Leber congenital amauro
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Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosalike pigmented retinal lesions, alternating exot