Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

PURPOSE: A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype–phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking. METHODS: We mapped breakpoints of 10 patients with 9q34.11 deletions using high-r...

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Detalhes bibliográficos
Main Authors: Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman, Leona, Riviello, James J., Nowaczyk, Malgorzata J.M., Zeesman, Susan, Rosenfeld, Jill A., Bejjani, Bassem A., Shaffer, Lisa G., Cheung, Sau Wai, Lupski, James R., Stankiewicz, Pawel, Scaglia, Fernando
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3713627/
https://ncbi.nlm.nih.gov/pubmed/22722545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.65
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