Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant syndrome of congenital external ophthalmoplegia and bilateral ptosis. We previously reported linkage of this disorder in two unrelated families to an 8-cM region near the centromere of human chromosome 12. We now present...

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Detalhes bibliográficos
Main Authors: Engle, E C, Marondel, I, Houtman, W A, de Vries, B, Loewenstein, A, Lazar, M, Ward, D C, Kucherlapati, R, Beggs, A H
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801372/
https://ncbi.nlm.nih.gov/pubmed/7485159
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