P410: Expanding the phenotype of EBF3-related disorders: A case of Pierre Robin sequence with cleft palate
with the exception of C2.Our patient was identified to have a pathogenic variant c.1847G>A (p.Arg616Gln) in TRPV4.Additional work-up showed normal bone density on DEXA, normal calcium and phosphorus and slightly low magnesium and Vitamin D 25 OH.
Authors
- Evgenia Sklirou
- Linford Williams
- Katherine Cioffi
- John Wang (ORCID: https://orcid.org/0000-0003-0935-9362)
- Leslie Cyprych
- Prerna Venner
Institutions
- Children's Hospital of Pittsburgh (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103277
- Primary Topic
- Cleft Lip and Palate Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00