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Psychomotor retardation with a 1q42.11–q42.12 deletion
A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation...
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Publicado no: | Hereditas |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5340030/ https://ncbi.nlm.nih.gov/pubmed/28286461 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s41065-016-0022-0 |
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