Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting with a constellation of clinical features consist...

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Detalles Bibliográficos
Autores principales: Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427664/
https://www.ncbi.nlm.nih.gov/pubmed/34512724
http://dx.doi.org/10.3389/fgene.2021.708348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427664/
https://www.ncbi.nlm.nih.gov/pubmed/34512724
http://dx.doi.org/10.3389/fgene.2021.708348

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