Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hye Ran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S. Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadkei, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. HiggsGrant S. Stewart, Eunyoung Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A. Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han-Woong Lee, Yonghwan Kim, Tae-Joon Cho

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican Journal of Human Genetics
Volume104
Issue number3
Pages (from-to)439-453
Number of pages15
ISSN0002-9297
DOIs
Publication statusPublished - 7 Mar 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • MMS22L-NFKBIL2 COMPLEX
  • MMS22L-TONSL COMPLEX
  • DNA-REPLICATION
  • REPAIR
  • STRESS
  • GENE
  • 1184 Genetics, developmental biology, physiology
  • 3111 Biomedicine

Cite this

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., ... Cho, T-J. (2019). Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. American Journal of Human Genetics, 104(3), 439-453. https://doi.org/10.1016/j.ajhg.2019.01.009