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De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2011-02, Vol.155A (2), p.445-449
Main Authors:	Schramm, Charlotte, Draaken, Markus, Bartels, Enrika, Boemers, Thomas M., Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Baudisch, Friederike, Priebe, Lutz, Hoffmann, Per, Zink, Alexander M., Engels, Hartmut, Brockschmidt, Felix F., Aretz, Stefan, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko
Format:	Article
Language:	English
Subjects:	Anorectal Malformations Anus, Imperforate - genetics Anus, Imperforate - pathology Child Chromosome Duplication - genetics Chromosomes, Human, Pair 18 - genetics Female Genotype Humans Karyotyping Male Mutation - genetics Phenotype Polymorphism, Single Nucleotide - genetics
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