Literature DB >> 25409383

Somatic mutations in cerebral cortical malformations.

Hiroyuki Morita, Issei Komuro.   

Abstract

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Year:  2014        PMID： 25409383     DOI： 10.1056/NEJMc1411784

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  1 in total

1.  Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Authors:  Marie Bernkopf; David Hunt; Nils Koelling; Tim Morgan; Amanda L Collins; Joanna Fairhurst; Stephen P Robertson; Andrew G L Douglas; Anne Goriely
Journal:  Hum Mutat       Date:  2017-07-06       Impact factor: 4.878
  1 in total

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