A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxi...

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Detalles Bibliográficos
Autores principales: Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896502/
https://www.ncbi.nlm.nih.gov/pubmed/27272187
http://dx.doi.org/10.1371/journal.pone.0157075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896502/
https://www.ncbi.nlm.nih.gov/pubmed/27272187
http://dx.doi.org/10.1371/journal.pone.0157075

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