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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Williams syndrome (WS) is a developmental disorder with variable phenotypic expression associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11.23 that includes the elastin gene (ELN). We have investigated the frequency and size of the deletions, determined the parental...

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Библиографические подробности
Главные авторы: Pérez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C., Francke, U.
Формат: Artigo
Язык:Inglês
Опубликовано: 1996
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914804/
https://ncbi.nlm.nih.gov/pubmed/8808592
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