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A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature

Chromosome 10q23 contains several genes, including PTEN and BMPR1A, the mutations or microdeletion of which are associated with aggressive polyposis and malignancies in children. Deletions in this chromosomal region have also been associated with heart anomalies, developmental delay and macrocephaly...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Pavone, Piero, Praticò, Andrea D, Campisi, Corrado, Falsaperla, Raffaele
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4840634/
https://ncbi.nlm.nih.gov/pubmed/27090543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-214388
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