Literature DB >> 28643950

Atypical dyskeratosis congenita diagnosed using whole-exome sequencing.

Ayaka Monoi1, Masahiro Sugawa1, Motohiro Kato1,2, Masafumi Seki1, Kenichi Yoshida3, Yuichi Shiraishi4, Hirotoshi Sakaguchi5, Seishi Ogawa3, Junko Takita1.   

Abstract

Entities:  

Keywords:  zzm321990TINF2zzm321990; diskeratosis congenita; myelodysplastic syndrome

Mesh：

Year:  2017        PMID： 28643950     DOI： 10.1111/ped.13314

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  2 in total

1.  de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

Authors:  S A Kocheva; M Gjorgjievska; K Martinova; Z Antevska-Trajkova; A Jovanovska; D Plaseska-Karanfilska
Journal:  Balkan J Med Genet       Date:  2022-06-05       Impact factor: 0.810

Review 2.  Revesz syndrome revisited.

Authors:  Michael Karremann; Eva Neumaier-Probst; Frank Schlichtenbrede; Fabian Beier; Tim H Brümmendorf; Friedrich W Cremer; Peter Bader; Matthias Dürken
Journal:  Orphanet J Rare Dis       Date:  2020-10-23       Impact factor: 4.123
  2 in total

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