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Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

BACKGROUND: Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting...

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Detalles Bibliográficos
Autores principales:	El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422130/ https://www.ncbi.nlm.nih.gov/pubmed/25927380 http://dx.doi.org/10.1186/s12881-015-0157-2

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