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Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to th...

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Библиографические подробности
Главные авторы: Black, G C, Perveen, R, Hatchwell, E, Reck, A, Clayton-Smith, J
Формат: Artigo
Язык:Inglês
Опубликовано: 1998
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051508/
https://ncbi.nlm.nih.gov/pubmed/9863593
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