RNA-first Approach Identifies Deep Intronic <i>PHEX</i> Variants in X-linked Hypophosphatemic Rickets
Analysis of RNA from urine-derived cells combined with sequencing of PHEX introns can identify deep intronic variants in individuals with XLH without a detectable PHEX variant in routine exon-centric molecular diagnosis.
Authors
- Frank Rauch (ORCID: https://orcid.org/0000-0002-6261-0360)
- Ghalib Bardai (ORCID: https://orcid.org/0000-0002-1319-4639)
- Zenghui Wu (ORCID: https://orcid.org/0000-0003-3097-8651)
- Nathalie Alos (ORCID: https://orcid.org/0000-0003-1258-7665)
- Valancy Miranda (ORCID: https://orcid.org/0000-0002-6344-1968)
- Leanne Marie Ward (ORCID: https://orcid.org/0000-0003-1557-9185)
- Karissa Ludwig (ORCID: https://orcid.org/0000-0003-4383-1552)
Institutions
- University of Ottawa (CA)
- Children's Hospital of Eastern Ontario (CA)
- Shriners Hospitals for Children - Canada (CA)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1210/clinem/dgae785
- Citations
- 3
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.70