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An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report
BACKGROUND/OBJECTIVES: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. RESULTS: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317034/ https://www.ncbi.nlm.nih.gov/pubmed/28250917 http://dx.doi.org/10.1177/2050313X17693967 |