Literature DB >> 26513514

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

Teck Wah Ting1, Maggie S Brett, Breana W M Cham, Jiin-Ying Lim, Hai Yang Law, Ene Choo Tan, Angeline H M Lai, Saumya S Jamuar.   

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Year:  2016        PMID： 26513514     DOI： 10.1097/MCD.0000000000000105

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


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  2 in total

1.  A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Authors:  Emeli Pontén; Sofia Frisk; Fulya Taylan; Raquel Vaz; Sandra Wessman; Leanne de Kock; Niklas Pal; William D Foulkes; Kristina Lagerstedt-Robinson; Ann Nordgren
Journal:  J Med Genet       Date:  2020-11-18       Impact factor: 6.318

2.  Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Authors:  Kateryna Venger; Miriam Elbracht; Julia Carlens; Peter Deutz; Felix Zeppernick; Lisa Lassay; Christian Kratz; Martin Zenker; Jung Kim; Douglas R Stewart; Ilse Wieland; Kris Ann P Schultz; Nicolaus Schwerk; Ingo Kurth; Udo Kontny
Journal:  Fam Cancer       Date:  2021-07-31       Impact factor: 2.446
  2 in total

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