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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectru...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466/ https://www.ncbi.nlm.nih.gov/pubmed/26236398 http://dx.doi.org/10.1186/s13039-015-0157-0 |