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July 25, 2017American Journal of Medical Genetics Part A

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion

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Authors

ACAyeshah ChaudhryBCBrian Hon‐Yin ChungDSDimitri J. Stavropoulos

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Chaudhry et al. (2017) studied this question.

synapsesocial.com/papers/69d894e8de3177251abed895https://doi.org/10.1002/ajmg.a.38321
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis2016 · 174 citations
  2. 2Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine2016 · 390 citations
  3. 3Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis2008 · 98 citations
  4. 4Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia2007 · 64 citations
  5. 5Zeb1 Mutant Mice as a Model of Posterior Corneal Dystrophy2008 · 56 citations