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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Detalles Bibliográficos
Autores principales: Riegel, Mariluce, Moreira, Lilia MA, Espirito Santo, Layla D, Toralles, Maria Betânia P, Schinzel, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243390/
https://www.ncbi.nlm.nih.gov/pubmed/25426167
http://dx.doi.org/10.1186/s13039-014-0077-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243390/
https://www.ncbi.nlm.nih.gov/pubmed/25426167
http://dx.doi.org/10.1186/s13039-014-0077-4

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