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...

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Dades bibliogràfiques
Publicat a:Biomedicine (Taipei)
Autors principals: Chang, Yu-Tzu, Wang, Chung-Hsing, Chou, I-Ching, Lin, Wei-De, Chee, Siew-Yin, Kuo, Huang-Tsung, Tsai, Fuu-Jen
Format: Artigo
Idioma:Inglês
Publicat: China Medical University 2014
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4264972/
https://ncbi.nlm.nih.gov/pubmed/25520920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7603/s40681-014-0007-0
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