P383: ERF truncating variants present with multiple congenital anomalies and developmental delay without craniosynostosis: Phenotype expansion
Abstract
ERF-related disorder has been association with an autosomal dominant craniosynostosis syndrome. More recently, Noonan-like phenotype with or without craniosynostosis has been described in few patients. We present the reported patient with a novel truncating variant in ERF gene with multiple congenital anomalies including congenital renal agenesis and congenital heart defect. Our case expands the ERF-related disorders phenotype and add to the current limited literature available on patients with truncating ERF variants including detailed genitourinary and cardiac phenotypes.
Fields of Study & Subjects
Craniofacial Disorders and Treatments
Genomics and Rare Diseases
Connective tissue disorders research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103877–103877
- Publication date
- 1 January 2026
- Language
- EN