Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.

The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cel...

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Detalhes bibliográficos
Main Authors: Ledbetter, D H, Ledbetter, S A, vanTuinen, P, Summers, K M, Robinson, T J, Nakamura, Y, Wolff, R, White, R, Barker, D F, Wallace, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC297572/
https://ncbi.nlm.nih.gov/pubmed/2740347
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