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Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?

The cases of a brother and sister with dentato-olivary dysplasia are described. Both had severe developmental delay, severe epilepsy of early onset, evolving hypertonic quadriplegia, and death in early childhood. Postmortem examination of the brain in one child showed a particular form of dentato-ol...

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Autores principales: Martland, T, Harding, B N, Morton, R E, Young, I
Formato: Artigo
Lenguaje:Inglês
Publicado: 1997
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051157/
https://ncbi.nlm.nih.gov/pubmed/9429148
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