Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

Orofacial clefts (OFCs) represent a large fraction of human birth defects and are one of the most common phenotypes affected by large copy number variants (CNVs). Due to the limited number of CNV patients in individual centers, CNV analyses of a large number of OFC patients are challenging. The pres...

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Publicado en:Hum Genet
Autores principales: Conte, Federica, Oti, Martin, Dixon, Jill, Carels, Carine E. L., Rubini, Michele, Zhou, Huiqing
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Investigation
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698300/
https://ncbi.nlm.nih.gov/pubmed/26561393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1606-x
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