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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternally inherited triplications separated by a copy-num...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4718869/
https://ncbi.nlm.nih.gov/pubmed/26549411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22929
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