Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic...

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Detalles Bibliográficos
Autores principales: Mefford, Heather C, Shafer, Neil, Antonacci, Francesca, Tsai, Jesse M, Park, Sarah S, Hing, Anne V, Rieder, Mark J, Smyth, Matthew D, Speltz, Matthew L, Eichler, Evan E, Cunningham, Michael L
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104131/
https://www.ncbi.nlm.nih.gov/pubmed/20683987
http://dx.doi.org/10.1002/ajmg.a.33557

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