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Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism

Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidate...

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Detalhes bibliográficos
Publicado no:Cytogenet Genome Res
Main Authors: Kaufman, Carolyn S., Genovese, Ann, Butler, Merlin G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7343397/
https://ncbi.nlm.nih.gov/pubmed/27880953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452815
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