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Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analys...
Autores principales: | Mc Cormack, Adrian, Taylor, Juliet, Gregersen, Nerine, George, Alice M., Love, Donald R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690635/ https://www.ncbi.nlm.nih.gov/pubmed/23840981 http://dx.doi.org/10.1155/2013/823451 |
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