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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

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