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A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Nine affected individuals are described from a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal degeneration. In all cases, the parents were at least first c...

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Detalhes bibliográficos
Main Authors: Mitchell, S J, McHale, D P, Campbell, D A, Lench, N J, Mueller, R F, Bundey, S E, Markham, A F
Formato: Artigo
Idioma:English
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377078/
https://ncbi.nlm.nih.gov/pubmed/9545391
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