Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype

BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only m...

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Detalles Bibliográficos
Autores principales: Han, Miaomiao, Wei, Lei, Liu, Fang, Gao, Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943926/
https://www.ncbi.nlm.nih.gov/pubmed/35331298
http://dx.doi.org/10.1186/s13039-022-00590-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943926/
https://www.ncbi.nlm.nih.gov/pubmed/35331298
http://dx.doi.org/10.1186/s13039-022-00590-5

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