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Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
China Medical University
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264972/ https://www.ncbi.nlm.nih.gov/pubmed/25520920 http://dx.doi.org/10.7603/s40681-014-0007-0 |