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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a mo...

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Detalhes bibliográficos
Main Authors: vanTuinen, P, Dobyns, W B, Rich, D C, Summers, K M, Robinson, T J, Nakamura, Y, Ledbetter, D H
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715542/
https://ncbi.nlm.nih.gov/pubmed/3189330
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