8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our...
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Format: | Article |
Language: | English |
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2010-02.
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by Alves Claudia, Liehr Thomas, Dermitzel Anette, Morlot Susanne, Robinson Denise, Curtis Merryl, Bunyan Dave, Barber John CK, Trindade Joana, Paramos Ana I, Cooper Clare, Ocraft Kevin, Taylor Emma-Jane, Maloney Viv K
Published 2010-02-01
Get full textPublished 2010-02-01
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