Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Carter, Tonia C., Sicko, Robert J., Kay, Denise M., Browne, Marilyn L., Romitti, Paul A., Edmunds, Zoë L., Liu, Aiyi, Fan, Ruzong, Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5612852/
https://ncbi.nlm.nih.gov/pubmed/28539665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.56
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