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  • Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations

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Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations

Authors

  1. Correspondence to:
 Dr G Barbi, Abteilung Humangenetik, Universitätsklinikum, Parkstrasse 11, 89073 Ulm, Germany;
 gotthold.barbi{at}medizin.uni-ulm.de
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Citation

Barbi G, Rossier E, Vossbeck S, et al
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
Journal of Medical Genetics 2002;39:e6.

Publication history

  • First published February 1, 2002.
Online issue publication 
April 27, 2016

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Copyright 2002 Journal of Medical Genetics