Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review prompted by a virtual multidisciplinary team meeting...

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Detalles Bibliográficos
Autores principales: Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Structural Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176330/
https://www.ncbi.nlm.nih.gov/pubmed/36411030
http://dx.doi.org/10.1136/jmg-2022-108753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176330/
https://www.ncbi.nlm.nih.gov/pubmed/36411030
http://dx.doi.org/10.1136/jmg-2022-108753

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