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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612852/
https://www.ncbi.nlm.nih.gov/pubmed/28539665
http://dx.doi.org/10.1038/jhg.2017.56

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612852/
https://www.ncbi.nlm.nih.gov/pubmed/28539665
http://dx.doi.org/10.1038/jhg.2017.56

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