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Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype

BACKGROUND: Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations. RESULTS: We describe a de novo 14q interstitial deletion in a 6-y...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Riegel, Mariluce, Moreira, Lilia MA, Espirito Santo, Layla D, Toralles, Maria Betânia P, Schinzel, Albert
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243390/
https://ncbi.nlm.nih.gov/pubmed/25426167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0077-4
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