A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

BACKGROUND: Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severity. METHODS: Via an international collaborative effort, we...

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Detalles Bibliográficos
Autores principales: Verdi, Giavanna, Li, Dong, Elsea, Sarah H., Nelson, Beverly, Bhoj, Elizabeth J., Hakonarson, Hakon, Yearwood, Katherine R., Upadhya, Sharmila, Gluschitz, Sarah, Smith, Janice L., Sobering, Andrew K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000934/
https://www.ncbi.nlm.nih.gov/pubmed/35189041
http://dx.doi.org/10.1002/mgg3.1900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000934/
https://www.ncbi.nlm.nih.gov/pubmed/35189041
http://dx.doi.org/10.1002/mgg3.1900

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