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Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Alagille syndrome is a clinically defined, dominantly inherited disorder affecting the liver, heart, face, eye, and vertebrae. Alagille syndrome has previously been localized to the short arm of chromosome 20, on the basis of reports of a small number of patients with chromosomal deletions of 20p. W...

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Autores principales: Spinner, N. B., Rand, E. B., Fortina, P., Genin, A., Taub, R., Semeraro, A., Piccoli, D. A.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918350/
https://ncbi.nlm.nih.gov/pubmed/8037203
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