Lab Med Online.  2016 Apr;6(2):57-59. 10.3343/lmo.2016.6.2.57.

Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

Affiliations
  • 1Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
  • 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
  • 3Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 4Green Cross Genome, Yongin, Korea.

Abstract

No abstract available.


MeSH Terms

Delayed Diagnosis*

Figure

  • Fig. 1 Affymetrix Cytoscan 750K microarray snapshot of the 507 kb deletion at 2q22.3, involving ZEB2 (gray zone) and GTDC1. The parents-patient trio analysis showed the de novo occurrence of the deletion.


Reference

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