Atypical dyskeratosis congenita diagnosed using whole-exome sequencing

Pediatr Int. 2017 Aug;59(8):933-935. doi: 10.1111/ped.13314. Epub 2017 Jun 23.

Authors

Ayaka Monoi¹, Masahiro Sugawa¹, Motohiro Kato^{1

2}, Masafumi Seki¹, Kenichi Yoshida³, Yuichi Shiraishi⁴, Hirotoshi Sakaguchi⁵, Seishi Ogawa³, Junko Takita¹

Affiliations

¹ Department of Pediatrics, University of Tokyo, Tokyo, Japan.
² Department of Cell Therapy and Transplantation Medicine, University of Tokyo, Tokyo, Japan.
³ Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
⁴ Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
⁵ Department of Pediatrics, Nagoya University, Nagoya, Japan.

PMID: 28643950
DOI: 10.1111/ped.13314

No abstract available

Keywords: TINF2; diskeratosis congenita; myelodysplastic syndrome.

Publication types

Case Reports

MeSH terms

Child, Preschool
Dyskeratosis Congenita / diagnosis*
Dyskeratosis Congenita / genetics
Exome Sequencing*
Female
Genetic Testing / methods*
Humans