Portuguese Journal of Pediatrics
EXT1-related osteochondromas and neurodevelopmental features
By Adriana Pinheiro, Cláudia Reis, Mariana Lima and 1 others.
Abstract
KeypointsWhat is known -Hereditary multiple osteochondromas is an autosomal dominant skeletal disorder most commonly associated with pathogenic variants in EXT1 or EXT2.What is added -This case illustrates the incidental diagnosis of hereditary multiple osteochondromas following the detection of a familial 8q24 deletion by genomic testing, highlighting the importance of recognizing clinically relevant secondary findings uncovered through genomic investigation.
Keywords
- Bone Tumor Diagnosis and Treatments
- Feature (linguistics)
- Disease
- Perspective (graphical)
- Congenital disease
- MEDLINE
- Open access
Source
Published in Portuguese Journal of Pediatrics. The abstract is shown as published and remains the work of its authors; read the full article at the source.
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