Literature DB >> 25348648

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.

Miroslava Hancarova1, Alena Puchmajerova, Jana Drabova, Eliska Karaskova, Marketa Vlckova, Zdenek Sedlacek.   

Abstract

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Year:  2014        PMID： 25348648     DOI： 10.1002/ajmg.a.36797

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Authors:  P Y Billie Au; Jing You; A Micheil Innes; Antonie D Kline; Oana Caluseriu; Jeremy Schwartzentruber; Jacek Majewski; Francois P Bernier; Marcia Ferguson; David Valle; Jillian S Parboosingh; Nara Sobreira
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

Review 2.  Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Authors:  P Y Billie Au; Caitlin Goedhart; Marcia Ferguson; Jeroen Breckpot; Koenraad Devriendt; Klaas Wierenga; Elizabeth Fanning; Dorothy K Grange; Gail E Graham; Carolina Galarreta; Marilyn C Jones; Usha Kini; Helen Stewart; Jillian S Parboosingh; Antonie D Kline; A Micheil Innes
Journal:  Eur J Hum Genet       Date:  2018-06-14       Impact factor: 4.246
  2 in total

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