Literature DB >> 33377604

A case of White-Sutton syndrome with previously described loss-of-function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.

Sameer Dal1, Bruce Hopper2, Maureen Van Rossum du Chattel2, Himanshu Goel1.   

Abstract

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Year:  2020        PMID： 33377604     DOI： 10.1002/ajmg.a.62042

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.578


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  2 in total

1.  Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Authors:  Gabriele Trimarchi; Stefano Giuseppe Caraffi; Francesca Clementina Radio; Sabina Barresi; Gianluca Contrò; Simone Pizzi; Ilenia Maini; Marzia Pollazzon; Carlo Fusco; Silvia Sassi; Davide Nicoli; Manuela Napoli; Rosario Pascarella; Giancarlo Gargano; Orsetta Zuffardi; Marco Tartaglia; Livia Garavelli
Journal:  Genes (Basel)       Date:  2021-06-22       Impact factor: 4.141

2.  Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Authors:  Dóra Nagy; Sarah Verheyen; Kristen M Wigby; Artem Borovikov; Artem Sharkov; Valerie Slegesky; Austin Larson; Christina Fagerberg; Charlotte Brasch-Andersen; Maria Kibæk; Ingrid Bader; Rebecca Hernan; Frances A High; Wendy K Chung; Jolanda H Schieving; Jana Behunova; Mateja Smogavec; Franco Laccone; Martina Witsch-Baumgartner; Joachim Zobel; Hans-Christoph Duba; Denisa Weis
Journal:  Genes (Basel)       Date:  2022-01-15       Impact factor: 4.141
  2 in total

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