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December 20, 2013American Journal of Medical Genetics Part A

A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region

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Authors

KSKristi SimensonEÕEve Õiglane‐ShlikRTRita Teek

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Simenson et al. (2013) studied this question.

synapsesocial.com/papers/6a7f0135e9bb045a73c3028fhttps://doi.org/10.1002/ajmg.a.36358
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Also Consider

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

  1. 1Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome2010 · 15 citations
  2. 2Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome2011 · 230 citations
  3. 322q13.3 deletion syndrome: Clinical and molecular analysis using array CGH2010 · 131 citations
  4. 4Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)2000 · 26 citations
  5. 522q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician2004 · 42 citations