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Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Asc...

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Detalles Bibliográficos
Autores principales: Deng, Ruizhi, McCalman, Melysia T., Bossuyt, Thomas P., Barakat, Tahsin Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8441011/
https://www.ncbi.nlm.nih.gov/pubmed/34539745
http://dx.doi.org/10.3389/fgene.2021.716874