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Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male pati...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Catena, Sofía, Aracena, Mariana, Pizarro, Óscar, Espinoza, Karena, Lay-Son, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803698/
https://ncbi.nlm.nih.gov/pubmed/29456478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000484427
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