Literature DB >> 20717007

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Rob W T Hastings1, Ruth Newbury-Ecob, Peter W Lunt.   

Abstract

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Year:  2010        PMID: 20717007     DOI: 10.1097/MCD.0b013e32833e07de

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  2 in total

1.  Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Authors:  Bianca Russell; Jennifer J Johnston; Leslie G Biesecker; Nancy Kramer; Angela Pickart; William Rhead; Wen-Hann Tan; Catherine A Brownstein; L Kate Clarkson; Amy Dobson; Avi Z Rosenberg; Samantha A Schrier Vergano; Benjamin M Helm; Rachel E Harrison; John M Graham
Journal:  Am J Med Genet A       Date:  2015-04-29       Impact factor: 2.802

2.  Expanding our knowledge of conditions associated with the ASXL gene family.

Authors:  Bianca Russell; John M Graham
Journal:  Genome Med       Date:  2013-02-21       Impact factor: 11.117

  2 in total

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