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Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome

BACKGROUND: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely...

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Detalhes bibliográficos
Main Authors: Kurban, Mazen, Kim, Chong Ae, Kiuru, Maija, Fantauzzo, Katherine, Cabral, Rita, Abbas, Ossama, Levy, Brynn, Christiano, Angela M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3696378/
https://ncbi.nlm.nih.gov/pubmed/22310962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000333800
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