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January 1, 2010Molecular SyndromologyOpen Access

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

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Authors

JWJosephine WincentKarolinska University HospitalDBDamien L. BrunoGallaudet UniversityBBBregje W.M. van BonRadboud University Nijmegen

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Wincent et al. (2010) studied this question.

synapsesocial.com/papers/6a7cd0b00bec9d44a65bc573https://doi.org/10.1159/000327982
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy2010 · 19 citations
  2. 2Distal 22q11.2 microduplication encompassing the BCR gene2008 · 35 citations
  3. 3Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing theDAX1Gene2007 · 138 citations
  4. 4Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.22005 · 141 citations