Phenotypic heterogeneity in <i>DYNC2H1</i>-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes
<i>DYNC2H1</i>-related SRTD exhibits significant phenotypic variability which cannot be reliably predicted by genotype but has some correlation with time of gestational presentation.
Authors
- Nikhil Pattani (ORCID: https://orcid.org/0000-0002-7233-3635)
- Sarju Mehta (ORCID: https://orcid.org/0000-0003-0446-3435)
- Sahar Mansour (ORCID: https://orcid.org/0000-0001-6629-4118)
- Nour M. Elkhateeb (ORCID: https://orcid.org/0000-0002-3076-3178)
- Helen V. Firth (ORCID: https://orcid.org/0000-0002-6410-0882)
- Jenny Carmichael
- Jorge Jiménez Barrios (ORCID: https://orcid.org/0000-0003-0342-0986)
- Leila Amel Riazat Kesh
- James Barber (ORCID: https://orcid.org/0000-0003-3108-1002)
- Jennifer Campbell
- A. J. Joshi (ORCID: https://orcid.org/0009-0006-3114-6442)
- Pilar Palmrich
Institutions
- St George's, University of London (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Wellcome Sanger Institute (GB)
- Wessex Regional Genetics Laboratory (GB)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-18
- DOI
- https://doi.org/10.1136/jmg-2024-110369
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00