The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant. Issue 3 (26th June 2022)
- Record Type:
- Journal Article
- Title:
- The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant. Issue 3 (26th June 2022)
- Main Title:
- The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant
- Authors:
- Lin, Yunting
Zhang, Wen
Li, Duan
Chen, Xiaodan
Lu, Zhikun
Li, Xiaojing
Li, Xiuzhen - Abstract:
- Abstract : A. The family pedigree. B. Whole exome sequencing of the proband‐parent trio revealed c.611_612dupTG(p.M205*) variant of FITM2 gene as suspicious variant. C. Sanger sequencing confirmed that c.611_612dupTG(p.M205*) variant of FITM2 gene was homozygous in the proband, while the unaffected parents were heterozygous.
- Is Part Of:
- Clinical genetics. Volume 102:Issue 3(2022)
- Journal:
- Clinical genetics
- Issue:
- Volume 102:Issue 3(2022)
- Issue Display:
- Volume 102, Issue 3 (2022)
- Year:
- 2022
- Volume:
- 102
- Issue:
- 3
- Issue Sort Value:
- 2022-0102-0003-0000
- Page Start:
- 246
- Page End:
- 247
- Publication Date:
- 2022-06-26
- Subjects:
- Medical genetics -- Periodicals
616.0420 - Journal URLs:
- http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/cge.14178 ↗
- Languages:
- English
- ISSNs:
- 0009-9163
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 22977.xml