Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions, duplications, and structural rearrangements. H...

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Detalles Bibliográficos
Autores principales: Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354344/
https://www.ncbi.nlm.nih.gov/pubmed/35932041
http://dx.doi.org/10.1186/s13039-022-00610-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354344/
https://www.ncbi.nlm.nih.gov/pubmed/35932041
http://dx.doi.org/10.1186/s13039-022-00610-4

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