Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microdu...

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Autori principali: Alvarado, David M., Aferol, Hyuliya, McCall, Kevin, Huang, Jason B., Techy, Matthew, Buchan, Jillian, Cady, Janet, Gonzales, Patrick R., Dobbs, Matthew B., Gurnett, Christina A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896772/
https://ncbi.nlm.nih.gov/pubmed/20598276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.010
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