A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Issue 5 (11th August 2021)
- Record Type:
- Journal Article
- Title:
- A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Issue 5 (11th August 2021)
- Main Title:
- A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
- Authors:
- Musa, Noha
Elmonem, Mohamed A.
Beetz, Christian
Hafez, Mona
Hassan, Mona
Rolfs, Arndt
Selim, Laila
Elkhateeb, Nour - Abstract:
- Abstract : Up: A schematic‐diagram of POU1F1‐gene. Down right: an electrophoretogram of the detected novel pathogenic‐variant in comparison with wild‐type POU1F1 exon‐6 sequence. Down left: Family pedigree of the two‐siblings reported.
- Is Part Of:
- Clinical genetics. Volume 100:Issue 5(2021)
- Journal:
- Clinical genetics
- Issue:
- Volume 100:Issue 5(2021)
- Issue Display:
- Volume 100, Issue 5 (2021)
- Year:
- 2021
- Volume:
- 100
- Issue:
- 5
- Issue Sort Value:
- 2021-0100-0005-0000
- Page Start:
- 641
- Page End:
- 642
- Publication Date:
- 2021-08-11
- Subjects:
- Medical genetics -- Periodicals
616.0420 - Journal URLs:
- http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/cge.14043 ↗
- 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:
- 19367.xml